variant in focal cortical dysplasia: a case report and review of the literature.

Germline and 2-hit brain somatic variants in gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatible with phenotype (FCD, focal epilepsy, attention-deficithyperactivity disorder and borderline intellectual functioning) This missense variant has previously been reported in two other epileptic patients. Although interpretation of missense variants remains a challenge variants in patients with FCD and epilepsy cannot be neglected. Null variants were the most frequently reported in FCD patients, but missense variants have been described as well. The recognition of phenotype and the appropriate interpretation of the detected variants are essential, since it may have important treatment implications in the near future, namely the use of mTOR inhibitors.