Rían W Manville Richard Sidlow Geoffrey W Abbott
10.3389/fneur.2022.975849
Front Neurol
2022 Aug 9;13:975849.
ataxia ea1 kcna1 kv11 carbamazepine
CC BY
https://pubmed.ncbi.nlm.nih.gov/36016548/
PMC9397541
36016548
Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia
2022