Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

Mutations in KCNQ2 encoding for voltage-gated K channel subunits underlying the neuronal M-current have been associated with infantile-onset epileptic disorders. The clinical spectrum ranges from self-limited neonatal seizures to epileptic encephalopathy and delayed development. Mutations in KCNQ2 c...

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Detalles Bibliográficos
Autores principales: Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971330/
https://www.ncbi.nlm.nih.gov/pubmed/36849527
http://dx.doi.org/10.1038/s41598-023-29924-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971330/
https://www.ncbi.nlm.nih.gov/pubmed/36849527
http://dx.doi.org/10.1038/s41598-023-29924-y

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