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

ABSTRACT: 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 models of KCTD7-related disease are lacking, and little is known regarding how KCTD7 protein defects lead to epilepsy and cognitive dysfunction. We characterized Kctd7 expression patterns in the mouse brain during development and show that it is selectively enriched in specific regions as the brain matures. We further demonstrate that Kctd7-deficient mice develop seizures and locomoto

SUBMITTER: Liang JH 

PROVIDER: S-EPMC9509889 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature