A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia
Sign Up to like & getrecommendations! Published in 2018 at "Nephron"
DOI: 10.1159/000488954
Abstract: Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a… read more here.
Keywords: patient tetany; novo kcna1; kcna1 mutation; mutation ... See more keywords
Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_235_22
Abstract: RefeRences 1. Headache Classification Committee of the International Headache Society (IHS). The international classification of headache disorders, 3rd edition. Cephalalgia 2018;38:1‐211. 2. Cao Y, Yang F, Dong Z, Huang X, Cao B, Yu S. Secondary… read more here.
Keywords: ataxia kcna1; headache; kcna1 mutation; dystonia cerebellar ... See more keywords