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Article

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2015

Straussberg Rachel, Ganelin-Cohen Esther, Goldberg-Stern Hadassah, Tzur Shay, Behar Doron M, Smirin-Yosef Pola, Salmon-Divon Mali, Basel-Vanagaite Lina

Abstract excerpt

We describe two siblings born to consanguineous Arab-Muslim parents who presented in early infancy with myoclonic seizures, hypertonia and contractures, arrested head growth, inability to swallow, and bouts of apnea-bradycardia, culminating in cardiac arrest and death. Whole-genome sequencing yielded a c.1173delG mutation in the BRAT1 gene. Three recent reports identified mutations in the same gene in three...

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Identifiers

PMID: 25500575
DOI: 10.1016/j.ejpn.2014.11.004

Genes

BRAT1

Provenance

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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