Impact of Copy Number Variants in Epilepsy plus neurodevelopment disorders

Epilepsy is a neurological disorder affecting 50 million people worldwide in which excessive neuronal excitability causes recurrent unprovoked seizures [1,2]. Genetic alterations are at the forefront of the primary causes of the disease etiology and the current estimate for the role of genetic causes is up to 70% [3]. Epilepsy is considered a heterogeneous group of disorders. Since one third of patients fail to respond adequately to treatment, understanding the genetic causes such as the presence of pathogenic copy number variants (CNVs) associated with epilepsy, should allow for better tailoring of therapeutic regimens [4].

Source: Seizure: European Journal of Epilepsy - January 18, 2024 Category: Neurology Authors: Sofia Jo ão, Rita Quental, Joel Pinto, Carolina Almeida, Helena Santos, Sofia Dória Source Type: research