1998-05-16
Three novel KCNA1 mutations in episodic ataxia type I families
Publication
Publication
Human Genetics , Volume 102 - Issue 4 p. 464- 466
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.
| Additional Metadata | |
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| doi.org/10.1007/s004390050722, hdl.handle.net/1765/54124 | |
| Human Genetics | |
| Organisation | Department of Neurology |
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Scheffer, H., Brunt, E. R. P., Mol, G. J. J., van der Vlies, P., Stulp, B. K., Verlind, E., … Buys, C. H. C. M. (1998). Three novel KCNA1 mutations in episodic ataxia type I families. Human Genetics, 102(4), 464–466. doi:10.1007/s004390050722 |
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