title: SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers.
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland. Electronic address: Kathleen.gorman@cuh.ie.
authors.forename: Kathleen Mary
authors.initials: KM
authors.lastname: Gorman
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.
authors.forename: Mary Dolores
authors.initials: MD
authors.lastname: King
mesh_terms: D001259:Ataxia / Q000235:genetics*; D002675:Child, Preschool; D018450:Disease Progression; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D006801:Humans; D008297:Male; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D012640:Seizures / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human