Seizure Phenotype and Underlying Cellular Defects in Drosophila Knock-In Models of DS (R1648C) and GEFS+ (R1648H) SCN1A Epilepsy

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 ass...

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Detalles Bibliográficos
Autores principales: Roemmich, Alexa Joanna, Vu, Thy, Lukacsovich, Tamas, Hawkins, Charlesice, Schutte, Soleil S., O’Dowd, Diane K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Neuroscience 2021
Materias:
Research Article: New Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454921/
https://www.ncbi.nlm.nih.gov/pubmed/34475263
http://dx.doi.org/10.1523/ENEURO.0002-21.2021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454921/
https://www.ncbi.nlm.nih.gov/pubmed/34475263
http://dx.doi.org/10.1523/ENEURO.0002-21.2021

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