Article
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
International journal of molecular sciences - 22 May 2024
Veltra Danai, Theodorou Virginia, Katsalouli Marina, Vorgia Pelagia, Niotakis Georgios, Tsaprouni Triantafyllia, Pons Roser, Kosma Konstantina, Kampouraki Afroditi, Tsoutsou Irene, Makrythanasis Periklis, Kekou Kyriaki, Traeger-Synodinos Joanne, Sofocleous Christalena
Abstract excerpt
SCN1A, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the initiation and propagation of action potentials and neuronal excitability causing various types of epilepsy. Dravet syndrome (DS), the first described clinical presentation of SCN1A channelopathy, is characterized by severe myoclonic epilepsy in infancy...
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