Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases

Here, we describe four patients suffering from a rather broad spectrum of epilepsy-related disorders, ranging from developmental and epileptic encephalopathy with intellectual disability (DEE) to genetic generalized epilepsy (GGE), which all harbor novel KCNH1 mutations. In one family, we found a we...

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Detalles Bibliográficos
Autores principales: von Wrede, Randi, Jeub, Monika, Ariöz, Idil, Elger, Christian E., von Voss, Hubertus, Klein, Hanns-Georg, Becker, Albert J., Schoch, Susanne, Surges, Rainer, Kunz, Wolfram S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909785/
https://www.ncbi.nlm.nih.gov/pubmed/33494179
http://dx.doi.org/10.3390/genes12020132

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909785/
https://www.ncbi.nlm.nih.gov/pubmed/33494179
http://dx.doi.org/10.3390/genes12020132

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