Three novel KCNA1 mutations in episodic ataxia type I families

Scheffer, Hans; Brunt, E. R P; Mol, G. J J; van der Vlies, P.; Stulp, B.K.; Verlind, E.; Mantel, G.; Averyanov, Y.; Hofstra, Robert; Buys, C.H.C.M.

doi:10.1007/s004390050722

H. Scheffer (Hans), E.R.P. Brunt (E. R P), G.J.J. Mol (G. J J), P. van der Vlies (P.), B.K. Stulp, E. Verlind (E.), G. Mantel (G.), Y.N. Averyanov (Y.), R.M.W. Hofstra (Robert) and C.H.C.M. Buys

1998-05-16

Three novel KCNA1 mutations in episodic ataxia type I families

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
Persistent URL	doi.org/10.1007/s004390050722, hdl.handle.net/1765/54124
Journal	Human Genetics
Organisation	Department of Neurology
Citation APA APA Style APA-ALL Style AAA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	Scheffer, H., Brunt, E. R. P., Mol, G. J. J., van der Vlies, P., Stulp, B. K., Verlind, E., Mantel, G., Averyanov, Y., Hofstra, R.& Buys, C. H. C. M. (1998). Three novel KCNA1 mutations in episodic ataxia type I families. Human Genetics, 102(4), 464–466.https://doi.org/10.1007/s004390050722

Three novel KCNA1 mutations in episodic ataxia type I families

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