SCN8A mutation in a child presenting with seizures and developmental delays.

• 发表时间: 11 2016
• 来源期刊: Cold Spring Harb Mol Case Stud
• DOI: 10.1101/mcs.a001073
• PMID: 27900360
• 文章类型: Case Reports
• 作者列表: Malcolmson J,Kleyner R,Tegay D,Adams W,Ward K,Coppinger J,Nelson L,Meisler MH,Wang K,Robison R,Lyon GJ

关键词: absent speech; action tremor; appendicular hypotonia; blepharospasm; broad forehead; bulbar palsy; developmental regression; developmental stagnation at onset of seizures; dysphagia; epileptic encephalopathy; exaggerated startle response; failure to thrive in infancy; full cheeks; gastroesophageal reflux; gastrostomy tube feeding in infancy; generalized tonic seizures; generalized tonic-clonic seizures on awakening; gingival overgrowth; hypoxemia; infantile axial hypotonia; intellectual disability, severe; neck muscle weakness; no social interaction; obstructive sleep apnea; respiratory difficulties

Mesh: Child, Preschool; Developmental Disabilities / complications genetics; Epilepsy / complications; Female; Humans; Mutation, Missense / genetics; NAV1.6 Voltage-Gated Sodium Channel / genetics metabolism; Seizures / complications genetics; Sequence Analysis, DNA; Whole Exome Sequencing / methods

Abstract

The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.