Expansion of the Epilepsy Genotype-Phenotype Spectrum: Genetic and Clinical Characterization of 288 Children with Epilepsy in China

Epilepsy, a common chronic disorder of the central nervous system, exhibits significant age – dependent incidence, peaking in the first year of life, declining with age, and stabilizing at puberty [1,2]. In China, around 9 million people have epilepsy, with a prevalence rate of about 7 per 1,000. Every year, there are 400,000 new epilepsy cases, making it the second most common neurological disease after headaches. This makes pediatric epilepsy a key focus in epilepsy care. Its causes are diverse, including infections, trauma, metabolic disorders, immune and genetic factors, and structural abnormalities [3–5], yet nearly half of epilepsy cases lack a clear cause [6].

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