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Article

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.

Human genetics - 1 Aug 2023

Sparber Peter, Bychkov Igor, Pyankov Denis, Skoblov Mikhail

Abstract excerpt

Dravet syndrome is a devastating epileptic syndrome characterized by intractable epilepsy with an early age of onset, regression of developmental milestones, ataxia, and motor deficits. Loss-of-function pathogenic variants in the SCN1A gene are found in the majority of patients with Dravet syndrome; however, a significant number of patients remain undiagnosed even after comprehensive genetic testing. Previously,...

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Identifiers

PMID: 37186029
DOI: 10.1007/s00439-023-02564-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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