Novel variants in established epilepsy genes in focal epilepsy

Next generation sequencing (NGS) has allowed the discovery of a vast array of genetic contributors to epilepsy. Hoverer, most findings are limited to examining patients with epileptic encephalopathy and severe epileptic syndromes of childhood [1,2], or adults with epilepsy and intellectual disability [3]. Until recently, our understanding of the causal contribution of gene variants in focal epilepsy has been limited to rare monogenetic familial syndromes. However, the last decade has seen the expansion of genetic discovery, particularly in common focal epilepsies, that has sparked interest in further investigation in these patients, particularly cases with a familial occurrence of epilepsy or no visible magnetic resonance imaging (MRI) lesion.

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