Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP(2) Interaction

Heterozygous missense variants in KCNQ2, which encodes the potassium channel subunit Kv7.2, are among the most common genetic causes of severe neonatal-onset epileptic encephalopathy. Because about 20% of known severe Kv7.2 missense changes lie within the intracellular C-terminal region, improving u...

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Detalles Bibliográficos
Autores principales: Tran, Baouyen, Ji, Zhi-Gang, Xu, Mingxuan, Tsuchida, Tammy N., Cooper, Edward C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518097/
https://www.ncbi.nlm.nih.gov/pubmed/33041849
http://dx.doi.org/10.3389/fphys.2020.571813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518097/
https://www.ncbi.nlm.nih.gov/pubmed/33041849
http://dx.doi.org/10.3389/fphys.2020.571813

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