BRAT1

Last update 08 May 2025

Basic Info

Synonyms

BAAT1, BRAT1, BRCA1 associated ATM activator 1

+ [4]

Introduction

Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994).

100 Clinical Results associated with BRAT1

100 Translational Medicine associated with BRAT1

0 Patents (Medical) associated with BRAT1

Literatures (Medical) associated with BRAT1

01 May 2025·Pediatric Neurology

Genetic Epilepsies With Onset in Infancy and Toddlerhood: A Prospective Single-Center Study in India

Article

Author: Kamate, Mahesh ; Thanuja, Basavanagowda

BACKGROUNDThe burden of genetic causes of epilepsy is higher in infants and toddlers. Early diagnosis helps in precision therapy and prenatal diagnosis. The spectrum of genetic causes can vary depending on the location and prevalence of consanguinity practices.METHODSChildren having epilepsy with onset before age three years were enrolled after ruling out acquired causes. Neuroimaging, electroencephalography, and whole exome sequencing (WES) were done and seizure outcome was assessed after six months.RESULTSWe enrolled 147 participants (82 boys, 65 girls). Mean age at seizure onset was 5.5 ± 6.5 months. WES gave an overall yield of 61.9% (91/147) and 71.4% (40/56) in cases with epilepsy onset before three months. Seventy (76.7%) cases had developmental delay. Commonly implicated genes were SCN1A, KCNQ2, ALDH7A1, STXBP1, TBC1D24, CDKL5, CPLX1, BRAT1, WWOX, and RHOBTB2. The common comorbidities of autism, attention-deficit/hyperactivity disorder, and intellectual disability had a significant association with genetic epilepsy. WES helped in precision medicine in over 40% of cases. While normal development was associated with higher rates of seizure freedom, those with severe microcephaly, a seizure burden of >200/month, or rigidity had higher mortality rates.CONCLUSIONSGenetic etiology for epilepsy is common in children with seizure onset below age three years, with yield being the highest for onset in the first three months. Presence of comorbidities increased the yield of genetic diagnosis. Autosomal recessive disorders are more common in India due to higher consanguinity rates. Higher seizure burden, severe microcephaly, or infantile epileptic spasm syndrome are associated with higher mortality.

01 Mar 2025·Clinical Genetics

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion

Article

Author: Safran, Amit ; Proskorovski‐Ohayon, Regina ; Hadar, Noam ; Freund, Ofek ; Birk, Ohad S. ; Agam, Nadav ; Gradstein, Libe ; Sadaka, Yair ; Poleg, Tomer ; Shelef, Ilan ; Jean, Matan M. ; Dolgin, Vadim

ABSTRACTBiallelic mutations in BRAT1 result in lethal neonatal rigidity and multifocal seizure syndrome and a milder neurodevelopmental disorder of cerebellar atrophy with or without seizures (NEDCAS, MIM 618056). Combining linkage analysis and whole‐genome sequencing (WGS), we identified a novel deep intronic BRAT1 variant, NC_000007.14 (NM_152743.4):c.128‐1585 T > G, in 3 siblings of a consanguineous Bedouin family exhibiting NEDCAS. In silico analyses followed by molecular studies demonstrated this variant's impact on splice regulatory elements, forming a cryptic exon, resulting in a deleterious frameshift and aberrant transcript. Previously reported pathogenic BRAT1 splice‐site mutations were adjacent to exons, affecting canonical consensus splice sites, and identifiable by whole‐exome sequencing. The deep intronic BRAT1 disease‐causing variant is thus unique and underscores the potential of intronic splice regulatory elements in BRAT1 disease pathogenesis, demonstrating the utility of WGS in identifying noncoding variants in unresolved cases. The affected individuals (deep into their twenties) are among the longest‐surviving patients described to date—delineating the NEDCAS phenotype at these ages. Although sharing homozygosity of the same variant, they show varying penetrance of nystagmus and extreme variability in the extent of ataxia and age of onset of developmental delay. Notably, we summarize all documented BRAT1 splice variants reported to date and their phenotypic associations.

01 Jan 2025·Annals of Indian Academy of Neurology

BRAT1 Mutation – A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype

Article

Author: Basanagouda, Thanuja ; Kamate, Mahesh

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BRAT1

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