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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2022
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| Materias: | |
| 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 |