BRAT1, BRCA1 associated ATM activator 1, 221927

N. diseases: 61; N. variants: 16
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 Biomarker disease BEFREE Disruption of BRAT1 function in RMFSL has been proposed to cause dysfunction in the DNA damage response pathway and impair mitochondrial homeostasis. 30346566 2018
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. 28635423 2017
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. 27282546 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome, a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death by age 2 years. 27480663 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). 26947546 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. 27282546 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR BRAT1-related disease--identification of a patient without early lethality. 26494257 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Variants in BRAT1 have been identified to cause lethal neonatal rigidity and multifocal seizure syndrome (OMIM# 614498), which consistently manifests a severe neurological phenotype that includes neonatal presentation of rigidity and hypertonia, microcephaly and arrested head growth, intractable seizures, absence of developmental progress, apneic episodes, and death usually by 6 months of age. 26494257 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease UNIPROT Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. 27282546 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient. 26947546 2016
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 26535877 2015
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GermlineCausalMutation disease ORPHANET Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 25500575 2015
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? 26483087 2015
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 25500575 2015
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Homozygous frameshift BRAT1 mutations were found in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). 25319849 2014
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease UNIPROT Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 CausalMutation disease CLINVAR Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047 2012
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 GeneticVariation disease BEFREE Prospective WGS disclosed potential molecular diagnosis of a severe GJB2-related skin disease in one neonate; BRAT1-related lethal neonatal rigidity and multifocal seizure syndrome in another infant; identified BCL9L as a novel, recessive visceral heterotaxy gene (HTX6) in a pedigree; and ruled out known candidate genes in one infant. 23035047 2012
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		0.780 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012