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Article

SCN1A gain of function in early infantile encephalopathy

18 Feb 2019

Abstract excerpt

OBJECTIVE: To elucidate the biophysical basis underlying the distinct and severe clinical presentation in patients with the recurrent missense SCN1A variant, p.Thr226Met. Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. METHODS: 1.1 channels expressed...

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PMID: 30779207
DOI: 10.1002/ana.25438

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