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BRAT1

Gene product: BRCA1 Associated ATM Activator 1.

Protein function: It is related to DNA damage repair and may be involved in mitochondrial homeostasis, cell growth and apoptosis.

Phenotype: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (AR)[1]；rigidity and multifocal seizure syndrome, lethal neonatal (AR)[2]；Ohtahara Syndrome (AR)[3]；Epilepsy Of Infancy With Migrating Focal Seizures (AR)[4]。

Mutation database: ClinVar.

Clinical research: PubMed（PMID: 37344571 (Eur J Hum Genet. 2023)）

Medication reminder: Most cases are refractory to antiepileptic drugs. There are also individual reports that zonisamide has a certain effect on apnea and generalized tonic convulsions caused by this gene mutation, but the overall treatment effect is still poor[3,5].

 

References:

  1. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A . 2016 Sep;170(9):2265-73.
  2. Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. Eur J Paediatr Neurol. 2015 Mar;19(2):240-2.
  3. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet. 2014 Dec;59(12):687-90.
  4. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. Dev Med Child Neurol. 2020 Sep;62(9):1096-1099.
  5. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet . 2023 Sep;31(9):1023-1031.