Three novel KCNA1 mutations in episodic ataxia type I families
- 106 Downloads
Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.
Unable to display preview. Download preview PDF.