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Article

An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.

Acta neurologica Belgica - 1 Dec 2020

Colak Fatma Kurt, Guleray Naz, Azapagasi Ebru, Yazıcı Mutlu Uysal, Aksoy Erhan, Ceylan Nesrin

Abstract excerpt

BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar...

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Identifiers

PMID: 33040300
DOI: 10.1007/s13760-020-01513-0
PMCID: PMC7547818

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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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