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Genetic heterogeneity in infantile spasms
AM. Muir, CT. Myers, NT. Nguyen, J. Saykally, D. Craiu, P. De Jonghe, I. Helbig, D. Hoffman-Zacharska, R. Guerrini, AE. Lehesjoki, C. Marini, RS. Møller, J. Serratosa, K. Štěrbová, P. Striano, S. von Spiczak, S. Weckhuysen, HC. Mefford,...
Language English Country Netherlands
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
R01 NS069605
NINDS NIH HHS - United States
- MeSH
- Shab Potassium Channels genetics MeSH
- Kinesins genetics MeSH
- Infant MeSH
- Spasms, Infantile diagnosis genetics MeSH
- Humans MeSH
- Mutation genetics MeSH
- Child, Preschool MeSH
- Monosaccharide Transport Proteins genetics MeSH
- GTP-Binding Protein alpha Subunits, Gi-Go genetics MeSH
- Receptors, Cytoplasmic and Nuclear genetics MeSH
- Repressor Proteins genetics MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.
Danish Epilepsy Centre Dianalund 4293 Denmark
Department of Medical Genetics Institute of Mother and Child Warsaw Poland
Department of Neurology Antwerp University Hospital Antwerp 2650 Belgium
Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA 98195 USA
Division of Neurology Children's Hospital of Philadelphia Philadelphia PA 19104 USA
Folkhälsan Research Center and Medical Faculty University of Helsinki Helsinki 00290 Finland
Institute Born Bunge University of Antwerp Antwerp 2610 Belgium
Institute for Regional Health research University of Southern Denmark Odense 5230 Denmark
Institute of Genetics and Biotechnology Warsaw University Warsaw Poland
Neurogenetics Group Center for Molecular Neurology VIB University of Antwerp Antwerp 2610 Belgium
Northern German Epilepsy Center for Children and Adolescents Schwentinental Raisdorf 24223 Germany
Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto G Gaslini Genova 16147 Italy
Pediatric Neurology Clinic Alexandru Obregia Hospital Bucharest Romania
References provided by Crossref.org
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- $a Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.
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