Article
Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.
Disease models & mechanisms - 1 Sept 2022
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
Abstract excerpt
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 large family of progressive myoclonic epilepsy syndromes displaying a broad spectrum of clinical severity. Animal...
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