Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening

We describe genetic and molecular-level functional alterations in the α4β2 neuronal nicotinic acetylcholine receptor (nAChR) from a patient with sleep-related hyperkinetic epilepsy and a family history of epilepsy. Genetic sequencing revealed a heterozygous variant c.851C>G in the CHRNA4 gene enc...

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Detalles Bibliográficos
Autores principales: Mazzaferro, Simone, Msekela, Deborah J., Cooper, Edward C., Maheshwari, Atul, Sine, Steven M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602795/
https://www.ncbi.nlm.nih.gov/pubmed/36292983
http://dx.doi.org/10.3390/ijms232012124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602795/
https://www.ncbi.nlm.nih.gov/pubmed/36292983
http://dx.doi.org/10.3390/ijms232012124

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