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Article

SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.

Epilepsia - 1 May 2023

Clatot Jérôme, Parthasarathy Shridhar, Cohen Stacey, McKee Jillian L, Massey Shavonne, Somarowthu Ala, Goldberg Ethan M, Helbig Ingo

Abstract excerpt

OBJECTIVE: Loss-of-function variants in SCN1A cause Dravet syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-related disorders due to gain-of-function variants. Here, we aim to refine the clinical, genetic, and functional electrophysiological features of a recurrent p.R1636Q gain-of-function variant, identified in...

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Identifiers

PMID: 36287100
DOI: 10.1111/epi.17444
PMCID: PMC10130239

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