Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects

Mutations in the potassium channel tetramerization domain-containing 7 (KCTD7) gene are associated with a severe neurodegenerative phenotype characterized by childhood onset of progressive and intractable myoclonic seizures accompanied by developmental regression. KCTD7-driven disease is part of a l...

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Detalles Bibliográficos
Autores principales: Liang, Justine H., Alevy, Jonathan, Akhanov, Viktor, Seo, Ryan, Massey, Cory A., Jiang, Danye, Zhou, Joy, Sillitoe, Roy V., Noebels, Jeffrey L., Samuel, Melanie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509889/
https://www.ncbi.nlm.nih.gov/pubmed/35972048
http://dx.doi.org/10.1242/dmm.049642

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509889/
https://www.ncbi.nlm.nih.gov/pubmed/35972048
http://dx.doi.org/10.1242/dmm.049642

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