High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel K(V)7.2 are associated with early onset epilepsy and/or developmental disability, but the functional consequences of most variants are unknown. Absent functional annotation for KCNQ2 variants hinders identification of...

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Detalles Bibliográficos
Autores principales: Vanoye, Carlos G., Desai, Reshma R., Ji, Zhigang, Adusumilli, Sneha, Jairam, Nirvani, Ghabra, Nora, Joshi, Nishtha, Fitch, Eryn, Helbig, Katherine L., McKnight, Dianalee, Lindy, Amanda S., Zou, Fanggeng, Helbig, Ingo, Cooper, Edward C., George, Alfred L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Resource and Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8983144/
https://www.ncbi.nlm.nih.gov/pubmed/35104249
http://dx.doi.org/10.1172/jci.insight.156314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8983144/
https://www.ncbi.nlm.nih.gov/pubmed/35104249
http://dx.doi.org/10.1172/jci.insight.156314

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