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Article

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy

1 Oct 2021

Abstract excerpt

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...

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PMID: 34755109
DOI: 10.1093/braincomms/fcab235

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