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Article

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

Fernández-Jaén Alberto, Álvarez Sara, So Eui Young, Ouchi Toru, Jiménez de la Peña Mar, Duat Anna, Fernández-Mayoralas Daniel Martín, Fernández-Perrone Ana Laura, Albert Jacobo, Calleja-Pérez Beatriz

Abstract excerpt

We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia. Whole exome sequencing revealed compound heterozygous BRAT1 mutations [c.1564G > A (p.Glu522Lys) and c.638dup (p.Val214Glyfs*189)]. Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure...

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Identifiers

PMID: 26947546
DOI: 10.1016/j.ejpn.2016.02.009
PMCID: PMC4979314

Genes

BRAT1

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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