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Article

BRAT1-related disease--identification of a patient without early lethality.

American journal of medical genetics. Part A - 1 Mar 2016

Mundy Sheraden A, Krock Bryan L, Mao Rong, Shen Joseph J

Abstract excerpt

We present a patient with neonatal onset of hypertonia and seizures identified through whole exome sequencing to have compound heterozygous variants, c.294dupA (p.Leu99fs) and c.1925C>A (p.Ala642Glu), in the BRCA1-associated protein required for ATM activation-1 (BRAT1) gene. Variants in BRAT1 have been identified to cause lethal neonatal rigidity and multifocal seizure syndrome (OMIM# 614498), which consistently...

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Source

Identifiers

PMID: 26494257
DOI: 10.1002/ajmg.a.37434

Genes

BRAT1
ATM
BRCA1

Variants

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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