Rare diseases with epileptic seizures

Abstract

Rare diseases with epilepsy are a heterogeneous group of entities in which there is frequently a genetic cause. In the majority of cases, the epilepsy that appears in these patients can be classified as “Developmental and Epileptical Encephalopathies”, showing clinical phenotypes in which there is an interaction between often refractory epilepsy with regression and impairment of neurodevelopment, in a context of epileptic syndromes more or less defined. The underlying genetic causes can today be precisely identified in many cases, allowing an early and individualized therapeutic approach in a Precision Medicine context. There are multiple examples, but epilepsy linked to SCN1A is particularly significant, including Dravet syndrome. In many cases, the specific mutation allows the future natural history to be delineated, so comprehensive anticipatory guidance can be offered that covers multiple patient needs beyond the specific use of drugs.