{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Brunklaus A"],"funding":["NINDS NIH HHS","NIH"],"pagination":["3816-3831"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9679167"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["145(11)"],"pubmed_abstract":["Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological"],"journal":["Brain : a journal of neurology"],"pubmed_title":["The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications."],"pmcid":["PMC9679167"],"funding_grant_id":["U54 NS108874"],"pubmed_authors":["Andrew J","Marjanovic D","Lal D","Lesca G","Delima S","Gallois J","Pysden K","Arzimanoglou A","Fons C","Nunez-Enamorado N","Russ-Hall SJ","Sully K","Lehikoinen A","Vaher U","Weiss S","Scheffer IE","Scott Perry M","Hanrahan D","Panagiotakaki E","McTague A","Brunger T","Zuberi SM","Cestele S","Vintan MA","Brunklaus A","Perez-Palma E","Symonds J","MacLeod S","Wirrell E","Moller RS","Syrbe S","Feng T","Vogt J","Velayutham M","Mantegazza M"],"additional_accession":[]},"is_claimable":false,"name":"The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.","description":"Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-18T14:58:19.88Z","creation":"2025-04-07T01:22:34.53Z"},"accession":"S-EPMC9679167","cross_references":{"pubmed":["35696452"],"doi":["10.1093/brain/awac210"]}}