Condition: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL


rs730880324 in BRAT1 gene and RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 26947546 2016 Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.

PMID 26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

PMID 25500575 2015 Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

PMID 27282546 2016 BRAT1 mutations present with a spectrum of clinical severity.

PMID 26494257 2016 BRAT1-related disease--identification of a patient without early lethality.

PMID 26483087 2015 Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?

PMID 23035047 2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.