Epileptic encephalopathies are severe early-onset disorders resulting from mutations in the genes encoding voltage-gated sodium channels. These channels regulate the initiation and propagation of ...

In a recent study, genetic mutations of the KCNQ2 potassium ion channel were identified in 8/80 (10%) of children with early infantile seizures and associated psychomotor retardation. [1] Seizures ...

Skeletal muscle channelopathies comprise a group of inherited disorders arising from mutations in ion channel genes that regulate muscle fibre excitability. Central to many of these conditions is ...