共 50 条
- [41] Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia FRONTIERS IN NEUROLOGY, 2022, 13
- [45] Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene Journal of Neurology, 2006, 253 : 957 - 959
- [50] Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2013, 84 (10): : 1107 - 1112