Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

ABSTRACT:

Background and objectives

BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis.

Methods

Through a multinational collaborative, we studied a cohort of neonates with encephalopathy associated with biallelic pathogenic variants in BRAT1 for whom detailed clinical, neurophysiologic, and neuroimaging information was available from the onset of symptoms. Neuropathologic changes were also analyzed.

Results

We included 19 neonates. Most neonates were born at term (16/19) from nonconsanguineous parents. 15/19 (79%) were admitted soon after birth to a neonatal intensive care unit, exhibiting multifocal myoclonus, both spontaneo

SUBMITTER: Carapancea E 

PROVIDER: S-EPMC10033164 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature