Women With Genetic Epilepsies

Some epilepsy syndromes are more common in female individuals. Often, these syndromes have an underlying genetic variant involving the X chromosome that is typically lethal in male individuals, resulting in a higher female prevalence. However, some of the idiopathic generalized epilepsies such as juvenile myoclonic epilepsy are conditions with complex inheritance, with thousands of variants in genes throughout the genome. But they can also have a predominance in female individuals. In this study, we performed a narrative review of PubMed and Scopus using the following entries: "epilepsy in women," "genetic epilepsy in female individuals," "epilepsy genetics in women," "female-specific epilepsy genetics," "epilepsy and genetic mutations in female individuals." The findings were synthesized and described according to clinical characteristics, underlying genetic mechanisms, and treatment considerations for these epilepsy syndromes manifesting largely in female individuals. The epilepsy syndromes reviewed here include Rett syndrome, CDKL5 deficiency disorder, PCDH19-related epilepsy, subcortical band heterotopia, periventricular heterotopia, Aicardi syndrome, and juvenile myoclonic epilepsy. Recognizing these epilepsy syndromes and understanding their underlying genetic etiology helps provide a tailored treatment approach early in the course of the disease. It can also assist with genetic counselling for family members who plan to have children.