De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy

OBJECTIVE: Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies. METHODS: Following clinical diagnosis, we...

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Detalles Bibliográficos
Autores principales: Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108282/
https://www.ncbi.nlm.nih.gov/pubmed/36318112
http://dx.doi.org/10.1111/epi.17455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108282/
https://www.ncbi.nlm.nih.gov/pubmed/36318112
http://dx.doi.org/10.1111/epi.17455

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