Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

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

Horn Denise, Weschke Bernhard, Knierim Ellen, Fischer-Zirnsak Björn, Stenzel Werner, Schuelke Markus, Zemojtel Tomasz

Abstract excerpt

We describe two siblings who were affected with early onset focal seizures, severe progressive postnatal microcephaly, muscular hypertonia, feeding problems and bouts of apnea, only minimal psychomotor development, as well as death in infancy and childhood. We identified compound heterozygous mutations in BRAT1 exons 5 (c.638_639insA) and 8 (c.1134+1G>A) in one affected child via next-generation sequencing of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Comparative Genomic Hybridization
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Magnetic Resonance Imaging

Share to Mitochondria

Share to Muscle, Skeletal

Share to Prostaglandin-Endoperoxide Synthases

Share to Ultrasonography

Source

Identifiers

PMID: 27282648
DOI: 10.1002/ajmg.a.37798

Genes

BRAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.PMID 27282648Read ↗

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.Semantic proximity Read ↗

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

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.Semantic proximity Read ↗

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

BRAT1-related disease--identification of a patient without early lethality.Semantic proximity Read ↗

Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.Semantic proximity Read ↗

BRAT1 mutations present with a spectrum of clinical severity.Semantic proximity Read ↗

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.Semantic proximity Read ↗

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.Semantic proximity Read ↗

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Semantic proximity Read ↗

Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.Semantic proximity Read ↗

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.