title: Encephalopathy and SCN1A mutations.
abstract: We describe three children with genetically different sodium channel alpha 1 subunit (SCN1A) mutation associated epilepsy who experienced a sudden and sustained neurologic regression following status epilepticus in two and acute sepsis in one. Neuroimaging showed evidence of cerebral ischemia in one, but the other two cases showed cerebellar signal abnormalities. The selectivity of cerebellar white matter change suggests a different mechanism of injury or increased susceptibility of this brain region to injury in at least some patients with SCN1A mutations. This report adds to the spectrum and mechanism of acute neurologic deterioration and functional deficit associated with SCN1A mutations, which remains to be fully understood.
authors.affiliation: Department of Paediatric Neurology, Evelina Children's Hospital, London, UK. tang.ss@gmail.com
authors.forename: Shan
authors.initials: S
authors.lastname: Tang
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Lin
authors.forename: Elaine
authors.initials: E
authors.lastname: Hughes
authors.forename: Ata
authors.initials: A
authors.lastname: Siddiqui
authors.forename: Ming
authors.initials: M
authors.lastname: Lim
authors.forename: Karine
authors.initials: K
authors.lastname: Lascelles
mesh_terms: D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics*; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D065768:Lennox Gastaut Syndrome; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels