Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

In neonates, most seizures are attributable to acquired non-genetic causes, including hypoxic-ischemic encephalopathy (HIE), vascular events or infectious diseases. A considerable subgroup, however, has a genetic basis. Many epilepsy-related genes encode ion channels, and epilepsies caused by pathogenic variants in this group are often referred to as channelopathies.[1 –3] Many of the channelopathies-related epilepsies are associated with defects of voltage-gated sodium, potassium or calcium channels.

Source: Seizure: European Journal of Epilepsy - June 22, 2023 Category: Neurology Authors: Judith A. Pijpers, Ping Yee Billie Au, Lauren Weeke, Alla A. Vein, Liesbeth Smit, Ana Vilan, Elke Jacobs, Linda S. de Vries, Sylke J. Steggerda, Maria Roberta Cilio, Evelina Carapancea, Marie-Coralie Cornet, Juan P. Appendino, Cacha M.P.C.D. Peeters-Schol Source Type: research