{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zaman T"],"funding":["National Institute of Neurological Disorders and Stroke","Burroughs Wellcome Fund","Japan Agency for Medical Research and Development","March of Dimes Foundation","NINDS NIH HHS","European Cooperation in Science and Technology","Wellcome Trust","Japan Society for the Promotion of Science"],"pagination":["348-362"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8552104"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["88(2)"],"pubmed_abstract":["<h4>Objective</h4>Pathogenic variants in SCN3A, encoding the voltage-gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuroimaging features of SCN3A-related neurodevelopmental disorder.<h4>Methods</h4>Patients were ascertained via an international collaborative network. We compared sodium channels containing wild-type versus variant Nav1.3 subunits coexpressed with β1 and β2 subunits using whole-cell voltage clamp electrophysiological recordings in a heterologous mammalian system (HEK-293T cells).<h4>Results</h4>Of 22 patients with pathogenic SCN3A variants, most had treatment-resistant epilepsy beginning in the first year of life (16/21, 76%; median onset, 2 weeks), w"],"journal":["Annals of neurology"],"pubmed_title":["SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation."],"pmcid":["PMC8552104"],"funding_grant_id":["R01 NS119977","JP19ek0109280","JP18kk020501","K08 NS097633","Career Award for Medical Scientists","WT098051","Basil O&apos;Connor Research Award","JP19dm0107090","JP19ek0109348","Action 16118 (European Network on Brain Malformati","JP17K10080","JP17H01539","JP19ek0109301"],"pubmed_authors":["Marom D","Zaman T","Thompson CH","Fujiwara Y","Charzewska A","Harrison V","Helbig I","Stouffs K","Helbig KL","Jansen AE","Srinivasan S","Guerrini R","Hoffman-Zacharska D","Goldberg EM","Bassan H","Kang SK","Joss S","Pilz DT","Vasudevan P","Parrini E","Fry AE","Clatot J","Ackermann S","Jacquinet A","Hauser N","Reish O","Spencer CE","Miyatake S","Fawcett KA","Lippa N","Fitzpatrick D","Kearney JA","Verstraete L","Ben-Zeev B","Vu TA","Matsumoto N"],"additional_accession":[]},"is_claimable":false,"name":"SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.","description":"<h4>Objective</h4>Pathogenic variants in SCN3A, encoding the voltage-gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuroimaging features of SCN3A-related neurodevelopmental disorder.<h4>Methods</h4>Patients were ascertained via an international collaborative network. We compared sodium channels containing wild-type versus variant Nav1.3 subunits coexpressed with β1 and β2 subunits using whole-cell voltage clamp electrophysiological recordings in a heterologous mammalian system (HEK-293T cells).<h4>Results</h4>Of 22 patients with pathogenic SCN3A variants, most had treatment-resistant epilepsy beginning in the first year of life (16/21, 76%; median onset, 2 weeks), w","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Aug","modification":"2025-04-18T19:11:23.481Z","creation":"2025-04-07T06:54:39.106Z"},"accession":"S-EPMC8552104","cross_references":{"pubmed":["32515017"],"doi":["10.1002/ana.25809"]}}