The epilepsy phenotype of KCNK4-related neurodevelopmental disease

Epilepsy is a chronic neurological disorder, defined by a persistent predisposition of the brain to generate epileptic seizures. It is characterized by high phenotypic and etiological heterogeneity, and accurate identification of the type and cause of epilepsy is essential for proper diagnosis and treatment. Recently, due to advances in genetic research, our understanding of the contribution of genetic variants to epilepsy has changed significantly. It is now estimated that up to 50% of epilepsies in children may have an identifiable genetic cause, and about 25% of genetic epilepsies are caused by ion channel mutations [1,2].

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