Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report

Genetic generalized epilepsy (GGE) is a broad group of epilepsies manifesting as generalized seizure types and generalized spike-waves. Despite clinical genetic evidence, the search for the genes responsible for GGE has been slow to identify pathogenic variants because of the polygenic basis [1].

Source: Seizure: European Journal of Epilepsy - April 4, 2024 Category: Neurology Authors: Kazutoshi Konomatsu, Yosuke Kakisaka, Kazutaka Jin, Takeshi Aiba, Shin Takahashi, Hironobu Ueda, Takafumi Kubota, Temma Soga, Kazushi Ukishiro, Masashi Aoki, Nobukazu Nakasato Source Type: research