JavaScript is NOT enabled !

Please enable JavaScript.

Article

FT
PubMed

This record comes from PubMed

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene

Barba, Carmen
Author Barba, Carmen ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Blumcke, Ingmar
Author Blumcke, Ingmar From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Winawer, Melodie R
Author Winawer, Melodie R From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Hartlieb, Till
Author Hartlieb, Till ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Kang, Hoon-Chul
Author Kang, Hoon-Chul From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Grisotto, Laura
Author Grisotto, Laura From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Chipaux, Mathilde
Author Chipaux, Mathilde From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Bien, Christian G
Author Bien, Christian G ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Heřmanovská, Barbora
Author Heřmanovská, Barbora From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Porter, Brenda E
Author Porter, Brenda E ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Lidov, Hart G W
Author Lidov, Hart G W From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Cetica, Valentina
Author Cetica, Valentina From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Woermann, Friedrich G
Author Woermann, Friedrich G From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Lopez-Rivera, Javier A
Author Lopez-Rivera, Javier A From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Canoll, Peter D
Author Canoll, Peter D From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Mader, Irina
Author Mader, Irina ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
D'Incerti, Ludovico
Author D'Incerti, Ludovico From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Baldassari, Sara
Author Baldassari, Sara ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Yang, Edward
Author Yang, Edward From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Gaballa, Ahmed
Author Gaballa, Ahmed From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Vogel, Hannes
Author Vogel, Hannes From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Straka, Barbora
Author Straka, Barbora ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Macconi, Letizia
Author Macconi, Letizia From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Polster, Tilman
Author Polster, Tilman From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Grant, Gerald A
Author Grant, Gerald A From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Krsková, Lenka
Author Krsková, Lenka From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Shin, Hui Jin
Author Shin, Hui Jin From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Ko, Ara
Author Ko, Ara From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Crino, Peter B
Author Crino, Peter B From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Krsek, Pavel
Author Krsek, Pavel ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Lee, Jeong Ho
Author Lee, Jeong Ho From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Lal, Dennis
Author Lal, Dennis From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Baulac, Stéphanie
Author Baulac, Stéphanie ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Poduri, Annapurna
Author Poduri, Annapurna From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
Guerrini, Renzo
Author Guerrini, Renzo ORCID From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA
SLC35A2 Study Group
Author SLC35A2 Study Group

Neurology. 2023 Jan 31 ; 100 (5) : e528-e542. [epub] 20221028

ISSN 1526-632X | 0028-3878
Source

Language English Country United States Media print-electronic

Document type Multicenter Study, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid36307217

Grant support
R01 NS114122 NINDS NIH HHS - United States
R01 NS115017 NINDS NIH HHS - United States
P50 HD105351 NICHD NIH HHS - United States
R01 NS089552 NINDS NIH HHS - United States
R01 NS117544 NINDS NIH HHS - United States
R01 NS094596 NINDS NIH HHS - United States
R21 NS101303 NINDS NIH HHS - United States

Online Full text

PubMed 36307217
PubMed Central PMC9931085
DOI 10.1212/wnl.0000000000201471
PII: WNL.0000000000201471
Knihovny.cz E-resources

MeSH
Electroencephalography MeSH
Epilepsy * genetics surgery diagnosis MeSH
Humans MeSH
Brain diagnostic imaging surgery pathology MeSH
Drug Resistant Epilepsy * genetics surgery pathology MeSH
Retrospective Studies MeSH
Treatment Outcome MeSH
Seizures pathology MeSH
Check Tag
Humans MeSH
Publication type
Journal Article MeSH
Multicenter Study MeSH
Research Support, Non-U.S. Gov't MeSH
Research Support, N.I.H., Extramural MeSH

BACKGROUND AND OBJECTIVES: The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic SLC35A2 gene variants. METHODS: This is a retrospective multicenter study where we performed a descriptive analysis and classical hypothesis testing. We included the variables of interest significantly associated with the outcomes in the generalized linear models. RESULTS: Two main phenotypes were associated with brain somatic SLC35A2 variants: (1) early epileptic encephalopathy (EE, 39 patients) with epileptic spasms as the predominant seizure type and moderate to severe intellectual disability and (2) drug-resistant focal epilepsy (DR-FE, 8 patients) associated with normal/borderline cognitive function and specific neuropsychological deficits. Brain MRI was abnormal in all patients with EE and in 50% of those with DR-FE. Histopathology review identified mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy in 44/47 patients and was inconclusive in 3. The 47 patients harbored 42 distinct mosaic SLC35A2 variants, including 14 (33.3%) missense, 13 (30.9%) frameshift, 10 (23.8%) nonsense, 4 (9.5%) in-frame deletions/duplications, and 1 (2.4%) splicing variant. Variant allele frequencies (VAFs) ranged from 1.4% to 52.6% (mean VAF: 17.3 ± 13.5). At last follow-up (35.5 ± 21.5 months), 30 patients (63.8%) were in Engel Class I, of which 26 (55.3%) were in Class IA. Cognitive performances remained unchanged in most patients after surgery. Regression analyses showed that the probability of achieving both Engel Class IA and Class I outcomes, adjusted by age at seizure onset, was lower when the duration of epilepsy increased and higher when postoperative EEG was normal or improved. Lower brain VAF was associated with improved postoperative cognitive outcome in the analysis of associations, but this finding was not confirmed in regression analyses. DISCUSSION: Brain somatic SLC35A2 gene variants are associated with 2 main clinical phenotypes, EE and DR-FE, and a histopathologic diagnosis of MOGHE. Additional studies will be needed to delineate any possible correlation between specific genetic variants, mutational load in the epileptogenic tissue, and surgical outcomes.

From the IRCCS Meyer Children's Hospital Cambridge MA

Comment In

Neurology. 100(5):225. PubMed

See more in PubMed

Kodera H, Nakamura K, Osaka H, et al. . De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013;34(12):1708-1714. doi: 10.1002/humu.22446 PubMed DOI

Ng BG, Buckingham KJ, Raymond K, et al. . Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013;92(4):632-636. doi: 10.1016/j.ajhg.2013.03.012 PubMed DOI PMC

Winawer MR, Griffin NG, Samanamud J, et al. . Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018;83(6):1133-1146. doi: 10.1002/ana.25243 PubMed DOI PMC

Blümcke I, Thom M, Aronica E, et al. . The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia. 2011;52(1):158-174. doi: 10.1111/j.1528-1167.2010.02777.x PubMed DOI PMC

Sim NS, Seo Y, Lim JS, et al. . Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation. Neurol Genet. 2018;4(6):e294. doi: 10.1212/NXG.0000000000000294 PubMed DOI PMC

Miller KE, Koboldt DC, Schieffer KM, et al. . Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue. Neurol Genet. 2020;6(4):e460. doi: 10.1212/nxg.0000000000000460 PubMed DOI PMC

Palmini A, Najm I, Avanzini G, et al. . Terminology and classification of the cortical dysplasias. Neurology. 2004;62(Issue 6, Supplement 3):S2–S8. doi: 10.1212/01.wnl.0000114507.30388.7e PubMed DOI

Baldassari S, Ribierre T, Marsan E, et al. . Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol. 2019;138(6):885-900. doi: 10.1007/s00401-019-02061-5 PubMed DOI PMC

Lai D, Gade M, Yang E, et al. . Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain. 2022;145(8):2704-2720. doi: 10.1093/brain/awac117 PubMed DOI PMC

Bedrosian TA, Miller KE, Grischow OE, et al. . Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022;63(8):1981-1997. doi: 10.1111/epi.17323 PubMed DOI

Bonduelle T, Hartlieb T, Baldassari S, et al. . Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathol Commun. 2021;9(1):3-13. doi: 10.1186/s40478-020-01085-3 PubMed DOI PMC

Schurr J, Coras R, Rössler K, et al. . Mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy: a new clinico-pathological entity. Brain Pathol. 2017;27(1):26-35. doi: 10.1111/bpa.12347 PubMed DOI PMC

Blümcke I, Coras R, Busch RM, et al. . Toward a better definition of focal cortical dysplasia: an iterative histopathological and genetic agreement trial. Epilepsia. 2021;62(6):1416-1428. doi: 10.1111/epi.16899 PubMed DOI

Najm I, Lal D, Alonso Vanegas M, et al. . The ILAE consensus classification of focal cortical dysplasia : an update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia. 2022;63(8):1899-1919. doi: 10.1111/epi.17301 PubMed DOI PMC

Hartlieb T, Winkler P, Coras R, et al. . Age-related MR characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Epilepsy Behav. 2019;91:68-74. doi: 10.1016/j.yebeh.2018.07.009 PubMed DOI

Mendes Coelho VC, Morita-Sherman M, Yasuda CL, et al. . Magnetic resonance imaging findings and clinical characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy in a predominantly adult cohort. Epilepsia. 2021;62(6):1429-1441. doi: 10.1111/epi.16907 PubMed DOI

Gaballa A, Woermann FG, Cloppenborg T, et al. . Clinical characteristics and postoperative seizure outcome in patients with mild malformation of cortical development and oligodendroglial hyperplasia. Epilepsia. 2021;62(12):2920-2931. doi: 10.1111/epi.17084 PubMed DOI

Garganis K, Kokkinos V, Zountsas B, Dinopoulos A, Coras R, Blümcke I. Temporal lobe “plus” epilepsy associated with oligodendroglial hyperplasia (MOGHE). Acta Neurol Scand. 2019;140(4):296-300. doi: 10.1111/ane.13142 PubMed DOI

Fisher RS, Cross JH, French JA, et al. . Operational classification of seizure types by the international league against epilepsy: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58(4):522-530. doi: 10.1111/epi.13670 PubMed DOI

Scheffer IE, Berkovic S, Capovilla G, et al. . ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58(4):512-521. doi: 10.1111/epi.13709 PubMed DOI PMC

Rosenow F, Lüders H. Presurgical evaluation of epilepsy. Brain. 2001;124(9):1683-1700. doi: 10.1093/brain/124.9.1683 PubMed DOI

Isnard J, Taussig D, Bartolomei F, et al. . French guidelines on stereoelectroencephalography (SEEG). Neurophysiologie Clinique. 2018;48(1):5-13. doi: 10.1016/j.neucli.2017.11.005 PubMed DOI

Blümcke I, Aronica E, Miyata H, et al. . International recommendation for a comprehensive neuropathologic workup of epilepsy surgery brain tissue: a consensus Task Force report from the ILAE Commission on Diagnostic Methods. Epilepsia. 2016;57(3):348-358. doi: 10.1111/epi.13319 PubMed DOI

Engel J. Update on surgical treatment of the epilepsies. Summary of the second international palm desert conference on the surgical treatment of the epilepsies (1992). Neurology. 1993;43(8):1612-1617. doi: 10.1212/wnl.43.8.1612 PubMed DOI

Karczewski KJ, Francioli LC, Tiao G, et al. . The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-443. doi: 10.1038/s41586-020-2308-7 PubMed DOI PMC

Kane N, Acharya J, Benickzy S, et al. . A revised glossary of terms most commonly used by clinical electroencephalographers and updated proposal for the report format of the EEG findings. Revision 2017. Clin Neurophysiol Pract. 2017;2:170-185. doi: 10.1016/j.cnp.2017.07.002 PubMed DOI PMC

Tatum WO, Rubboli G, Kaplan PW, et al. . Clinical utility of EEG in diagnosing and monitoring epilepsy in adults. Clin Neurophysiol. 2018;129(5):1056-1082. doi: 10.1016/j.clinph.2018.01.019 PubMed DOI

EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014;95(4):360-370. doi: 10.1016/j.ajhg.2014.08.013 PubMed DOI PMC

Yates TM, Suri M, Desurkar A, et al. . SLC35A2-related congenital disorder of glycosylation: defining the phenotype. Eur J Paediatric Neurol. 2018;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002 PubMed DOI

Ng BG, Sosicka P, Agadi S, et al. . SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019;40(7):908-925. doi: 10.1002/humu.23731 PubMed DOI PMC

Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, et al. . Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet. 2015;134(6):649-658. doi: 10.1007/s00439-015-1553-6 PubMed DOI

Cooper GM, Stone EA, Asimenos G, Batzoglou S, Green ED, Sidow A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15(7):901-913. doi: 10.1101/gr.3577405 PubMed DOI PMC

Baud MO, Perneger T, Rácz A, et al. . European trends in epilepsy surgery. Neurology. 2018;91(2):e96–e106. doi: 10.1212/WNL.0000000000005776 PubMed DOI

Ryvlin P, Cross JH, Rheims S. Epilepsy surgery in children and adults. Lancet Neurol. 2014;13(11):1114-1126. doi: 10.1016/S1474-4422(14)70156-5 PubMed DOI

Barba C, Mai R, Grisotto L, et al. . Unilobar surgery for symptomatic epileptic spasms. Ann Clin Transl Neurol. 2017;4(1):36-45. doi: 10.1002/acn3.373 PubMed DOI PMC

Chugani HT, Ilyas M, Kumar A, et al. . Surgical treatment for refractory epileptic spasms: the Detroit series. Epilepsia. 2015;56(12):1941-1949. doi: 10.1111/epi.13221 PubMed DOI PMC

Bjellvi J, Olsson I, Malmgren K, Wilbe Ramsay K. Epilepsy duration and seizure outcome in epilepsy surgery: a systematic review and meta-Analysis. Neurology. 2019;93(2):E159–E166. doi: 10.1212/WNL.0000000000007753 PubMed DOI PMC

Lamberink HJ, Otte WM, Blümcke I, et al. . Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study. Lancet Neurol. 2020;19(9):748-757. doi: 10.1016/S1474-4422(20)30220-9 PubMed DOI

Wyllie E, Lachhwani DK, Gupta A, et al. . Successful surgery for epilepsy due to early brain lesions despite generalized EEG findings. Neurology. 2007;69(4):389-397. doi: 10.1212/01.wnl.0000266386.55715.3f PubMed DOI

Moseley BD, Nickels K, Wirrell EC. Surgical outcomes for intractable epilepsy in children with epileptic spasms. J Child Neurol. 2012;27(6):713-720. doi: 10.1177/0883073811424463 PubMed DOI

West S, Nevitt SJ, Cotton J, et al. . Surgery for epilepsy. Cochrane Database Syst Rev. 2019;6:CD010541. doi: 10.1002/14651858.CD010541.pub3 PubMed DOI PMC

Widjaja E, Jain P, Demoe L, Guttmann A, Tomlinson G, Sander B. Seizure outcome of pediatric epilepsy surgery. Neurology. 2020;94(7):311-321. doi: 10.1212/WNL.0000000000008966 PubMed DOI

Spencer S, Huh L. Outcomes of epilepsy surgery in adults and children. Lancet Neurol. 2008;7(6):525-537. doi: 10.1016/S1474-4422(08)70109-1 PubMed DOI

Boshuisen K, Van Schooneveld MMJ, Uiterwaal CSPM, et al. . Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery. Ann Neurol. 2015;78(1):104-114. doi: 10.1002/ana.24427 PubMed DOI

Koutroumanidis M, Arzimanoglou A, Caraballo R, et al. . The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2). Epileptic Disord. 2017;19(4):385-437. doi: 10.1684/epd.2017.0952 PubMed DOI

Omasits U, Ahrens CH, Müller S, Wollscheid B. Protter: interactive protein feature visualization and integration with experimental proteomic data. Bioinformatics. 2014;30(6):884-886. doi: 10.1093/bioinformatics/btt607 PubMed DOI

Sim NS, Ko A, Kim WK, et al. . Precise detection of low-level somatic mutation in resected epilepsy brain tissue. Acta Neuropathol. 2019;138(6):901-912. doi: 10.1007/s00401-019-02052-6 PubMed DOI

Newest 20 citations...

See more in
Medvik | PubMed

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Cellular and molecular life sciences. 2025 Jun 27 ; 82 (1) : 257. [epub] 20250627

Cell Mol Life Sci
ISSN 1420-9071 | 1420-682X
Source

A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy

Epilepsia open. 2024 Feb ; 9 (1) : 424-431. [epub] 20231214

Epilepsia Open
ISSN 2470-9239
Source

Borrow
RIS

Find record

In BMC

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene

Find record

Citation metrics

Archiving options