Heterozygous RELN Missense Variants Associated with Genetic Generalized Epilepsy

Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, comprise a broad group of genetically determined epileptic syndromes in approximately a quarter of epilepsies [1]. Based on the main seizure types and age at onset, the four common GGE syndromes are juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), childhood absence epilepsy (CAE), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). Previous twin studies and pedigree analyses have demonstrated the high heritability of GGE [2,3].

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