Abstract

BRAT1 (BRCA1-associated ATM activator-1) gene is involved in cell proliferation and migration, apoptosis, DNA repair, mitochondrial homeostasis, and mTOR signaling. This gene has been recently related to lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). This syndrome is characterized by a progressive encephalopathy with refractory epilepsy, hypertonia, slow head growth, and dysautonomia. Brain MRIs and postmortem examinations have shown a severe and progressive cerebral and cerebellar atrophy secondary to a marked neuron depletion and gliosis in the white matter. The loss of BRAT1 expression and function due to homozygous or compound heterozygous BRAT1 mutations justifies this brain atrophy and its consequences. Further extended knowledge about BRAT1 functions might lead to new therapeutic options for this syndrome and perhaps for cancer treatment too.