Article

The <i>SCN1A</i> Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathy

2022-07-01

Abstract excerpt

<h4>Objective</h4> 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, identi...

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Literature Corpus work: 86849b75-78f8-5597-9c48-becb7357e54e
DOI: 10.1101/2022.06.29.498154

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