BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consanguineous Chinese parents who presented with hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures, and worsening episodic apnea, leading to intubation and eventually death at 10 weeks of age. Whole exome sequencing revealed homozygous BRAT1 mutation, c.