Pizzuto(C),Morabito(V),Carapancea(E),Cilio... Dev Med Child Neurol 2026-08-10

...BRAT1-, KCNT1-, FGF12-, SMC1A-, STXBP1-, GNAO1-, PHF6-, CELF2-, and 2q24.3 microduplication-related epilepsies were incl...

Valtorta(B),Polackova(Z),Maroofian(R),Hero... Genome Med 2026-05-12

...BRAT1's role in RNA processing and establish Integrator dysfunction as a primary pathogenic mechanism in BRAT1-associate...

Zhao(P),Li(K),Xiu(W),Liu(Z),Huang(Y),Jiang... Front Immunol None

...BRAT1. Additionally, it was associated with TMB and was correlated with the infiltration of immune cells such as M1 macr...

Qin(DY),Tang(QQ),Feng(D),Song(YJ),Cheng(ZH... Front Pediatr None

Biallelic BRCA1-associated ataxia telangiectasia mutated activator 1 (BRAT1) gene mutations can result in lethal neonata...

Fields(N),Han(S),Mei(W),Shannon(E),Buehler... medRxiv 2026-05-13

...BRAT1 in thyroid and breast cancer, respectively. Overall, polygenic risk and rare variants impacting known genes explai...

Straussberg(Rachel),Ganelin-Cohen(Esther),... Eur J Paediatr Neurol 2016-04-01

...BRAT1 gene. Three recent reports identified mutations in the same gene in three infants from three Amish sibships, one M...

van de Pol(Laura A),Wolf(Nicole I),van Wei... Neuropediatrics 2016-09-07

...BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalop...

Mundy(Sheraden A),Krock(Bryan L),Mao(Rong)... Am J Med Genet A 2016-11-04

...BRAT1) gene. Variants in BRAT1 have been identified to cause lethal neonatal rigidity and multifocal seizure syndrome (O...

Hanes(Ilana),Kozenko(Mariya),Callen(David ... Pediatr Neurol 2016-09-27

...BRAT1 (BRCA1 [breast cancer-1]-associated ataxia telangiectasia mutated activator 1) gene. There are few cases in the li...

Low(Ley-Hian),Chow(Yuh-Lit),Li(Yijia),Goh(... J Biol Chem 2015-05-29

...BRAT1 leads to BRAT1 trafficking into the cell nucleus. Without Ndfip1, BRAT1 failed to translocate to the nucleus. Unde...