biostudies-literatureUnknown66(7)De la Rosa SO<h4>Objective</h4>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.<h4>Methods</h4>We describe epilepsy features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, and neurodevelopment of 15 patients with biallelic MBOAT7 variants.<h4>Results</h4>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. PatienEpilepsia2379-2390https://www.ebi.ac.uk/biostudies/studies/S-EPMC12291024biostudies-literatureMBOAT7 encephalopathy: Characterizing the neurology and epileptology.PMC12291024Costa CNunes TJauss RTBoerkoel CFGavrilova RAhrens-Nicklas ROrtigoza-Escobar JDGardella ESherr EPlatzer KDe la Rosa SOKoolen DAHuynh SFenger CDProntera PRakic BArgilli ELemire GCasas-Alba DHuh LBartolomaeus TRizzo VMercimek-Andrews SMoller RSBayat AKhinchi MSBernard GEscolar MBoycott KMfalseMBOAT7 encephalopathy: Characterizing the neurology and epileptology.<h4>Objective</h4>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.<h4>Methods</h4>We describe epilepsy features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, and neurodevelopment of 15 patients with biallelic MBOAT7 variants.<h4>Results</h4>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. Patien2025-01-01T00:00:00Z2025 Jul2025-08-13T03:04:11.622Z2025-08-13T03:04:11.622ZS-EPMC122910244011676010.1111/epi.18376