Brunklaus A, Du J, Steckler F, Ghanty I, Johannesen K, Fenger CD, Schorge S, Baez-Nieto D, Wang H-R, Allen A, et al. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020;61(3):387–399.
Abstract
Voltage‐gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain‐expressed SCN genes SCN1A/2A/3A/8A have been associated with heterogeneous epilepsy phenotypes and neurodevelopmental disorders. To better understand the biology of seizure susceptibility in SCN‐related epilepsies, our aim was to determine similarities and differences between sodium channel disorders, allowing us to develop a broader perspective on precision treatment than on an individual gene level alone.
Last updated on 02/17/2021