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Article

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

15 May 2015

Abstract excerpt

Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, movement disorders,...

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PMID: 26029160
DOI: 10.3389/fneur.2015.00104

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