Shir Quinn, Nan Zhang, Timothy A Fenton, Marina Brusel, Preethi Muruganandam, Yoav Peleg, Moshe Giladi, Yoni Haitin, Holger Lerche, Haim Bassan, Yuanyuan Liu, Roy Ben-Shalom, Moran Rubinstein
Mutations in the SCN8A gene, encoding the voltage-gated sodium channel NaV 1.6, are associated with a range of neurodevelopmental syndromes. The p.(Gly1625Arg) (G1625R) mutation was identified in a patient diagnosed with Developmental epileptic encephalopathy (DEE). While most of the characterized DEE-associated SCN8A mutations were shown to cause a gain-of-channel function, we show that the G1625R variant, positioned within the S4 segment of domain IV, results in complex effects. Voltage-clamp analyses of NaV 1...
March 20, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease