Persistent sodium currents in <i>SCN1A</i> developmental and degenerative epileptic dyskinetic encephalopathy.

ABSTRACT: Pathogenic variants in the voltage-gated sodium channel gene (SCN1A) are amongst the most common genetic causes of childhood epilepsies. There is considerable heterogeneity in both the types of causative variants and associated phenotypes; a recent expansion of the phenotypic spectrum of SCN1A associated epilepsies now includes an early onset severe developmental and epileptic encephalopathy with regression and a hyperkinetic movement disorder. Herein, we report a female with a developmental and degenerative epileptic-dyskinetic encephalopathy, distinct and more severe than classic Dravet syndrome. Clinical diagnostics indicated a paternally inherited c.5053G>T; p. A1685S variant of uncertain significance in SCN1A. Whole-exome sequencing detected a second de novo

SUBMITTER: Gorman KM 

PROVIDER: S-EPMC8568850 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature