MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

ABSTRACT:

Objective

Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.

Methods

We describe epilepsy features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, and neurodevelopment of 15 patients with biallelic MBOAT7 variants.

Results

All 15 patients had ID or developmental delay (DD). Twelve suffered from epilepsy, with mean age at seizure onset of 36 months (range = 2 months-6.5 years) and 10 of 12 showing signs of DD before seizure onset. Patien

SUBMITTER: De la Rosa SO 

PROVIDER: S-EPMC12291024 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature