Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.

Autor: Xie C; Department of Pediatrics, Xiangya Hospital, Central South University, Xiangya Road 87, Hunan, Changsha, 410008, China., Kessi M; Department of Pediatrics, Xiangya Hospital, Central South University, Xiangya Road 87, Hunan, Changsha, 410008, China., Yin F; Department of Pediatrics, Xiangya Hospital, Central South University, Xiangya Road 87, Hunan, Changsha, 410008, China., Peng J; Department of Pediatrics, Xiangya Hospital, Central South University, Xiangya Road 87, Hunan, Changsha, 410008, China. Pengjing627@126.com.; Hunan Intellectual and Development Disabilities Research Center, Hunan, Changsha, 410008, China. Pengjing627@126.com.
Jazyk: angličtina
Zdroj: Molecular neurobiology [Mol Neurobiol] 2024 Nov; Vol. 61 (11), pp. 8491-8517. Date of Electronic Publication: 2024 Mar 22.
DOI: 10.1007/s12035-024-04120-9
Abstrakt: Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-function (LOF), and a mixed type (GOF/LOF) variants can cause different conditions/disorders. KCNA2-related neurological diseases include epilepsy, intellectual disability (ID), attention deficit/hyperactive disorder (ADHD), autism spectrum disorder (ASD), pain as well as autoimmune and movement disorders. Currently, the molecular mechanisms for the reported variants in causing diverse disorders are unknown. Consequently, this review brings up to date the related information regarding the structure and function of Kv1.2 channel, expression patterns, neuronal localizations, and tetramerization as well as important cell and animal models. In addition, it provides updates on human genetic variants, genotype-phenotype correlations especially highlighting the deep insight into clinical prognosis of KCNA2-related developmental and epileptic encephalopathy, mechanisms, and the potential treatment targets for all KCNA2-related neurological disorders.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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