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 |
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 |
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 |
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 |
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 |
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 |
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
BRAT1-related disease--identification of a patient without early lethality.
|
26494257 |
2016 |
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 |
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 |
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 |
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 |
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 |
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
|
26483087 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
BRAT1 mutations present with a spectrum of clinical severity.
|
27282546 |
2016 |
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
BRAT1-related disease--identification of a patient without early lethality.
|
26494257 |
2016 |
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
|
26483087 |
2015 |
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|