Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

OBJECTIVE: mutations in a broad range of epilepsies. METHODS: . RESULTS: variants in 6 individuals with a variable phenotype from focal, and less frequently generalized, epilepsies without brain malformations, to macrocephaly, with or without moderate intellectual disability. In addition, an inherited variant was found in a mother-daughter pair with nonlesional autosomal dominant nocturnal frontal lobe epilepsy. CONCLUSIONS: gene in FCD and germline mutations in the pathogenesis of focal epilepsy syndromes with and without brain malformation or macrocephaly.