Article
Seizure Phenotype and Underlying Cellular Defects in Drosophila Knock-In Models of DS (R1648C) and GEFS+ (R1648H) SCN1A Epilepsy.
eNeuro - 1 Jan 2000
Roemmich Alexa Joanna, Vu Thy, Lukacsovich Tamas, Hawkins Charlesice, Schutte Soleil S, O'Dowd Diane K
Abstract excerpt
Mutations in the voltage-gated sodium channel gene SCN1A are associated with human epilepsy disorders, but how most of these mutations alter channel properties and result in seizures is unknown. This study focuses on two different mutations occurring at one position within SCN1A R1648C (R-C) is associated with the severe disorder Dravet syndrome, and R1648H (R-H), with the milder disorder GEFS+. To explore how...
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