JavaScript NENÍ povolen !

* Zobrazit nápovědu

4 záznamů v PubMed Filtry

Článek

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

Barba, Carmen
Autor 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
Autor 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
Autor 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
Autor 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
Autor 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
Autor 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
Autor 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
Autor 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
Autor 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
Autor 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

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

ISSN 1526-632X | 0028-3878
Zdroj

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.

MeSH
elektroencefalografie MeSH
epilepsie * genetika chirurgie diagnóza MeSH
lidé MeSH
mozek diagnostické zobrazování chirurgie patologie MeSH
refrakterní epilepsie * genetika chirurgie patologie MeSH
retrospektivní studie MeSH
výsledek terapie MeSH
záchvaty patologie MeSH
Check Tag
lidé MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

Článek

Correction: The landscape of epilepsy-related GATOR1 variants

Genetics in medicine. 2019 Aug ; 21 (8) : 1896.

Genet Med
ISSN 1530-0366 | 1098-3600
Zdroj

The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.

Publikační typ
tisková chyba MeSH

Článek

Correction to: The landscape of epilepsy-related GATOR1 variants

Genetics in medicine. 2019 Jul ; 21 (7) : 1671.

Genet Med
ISSN 1530-0366 | 1098-3600
Zdroj

The original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now been corrected in the HTML, the PDF was correct at the time of publication.

Publikační typ
tisková chyba MeSH

Článek

The landscape of epilepsy-related GATOR1 variants

Genetics in medicine. 2019 Feb ; 21 (2) : 398-408. [epub] 20180810

Genet Med
ISSN 1530-0366 | 1098-3600
Zdroj

PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. RESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign. CONCLUSION: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.

* Zobrazit nápovědu

Upřesnit dle MeSH