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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Scheffer, H. et al.

Scheffer, Brunt, Mol, van der Vlies, Stulp, Verlind, Mantel, Averyanov, Hofstra, Buys,

Three novel KCNA1 mutations in episodic ataxia type I families.

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.[1]

References

Three novel KCNA1 mutations in episodic ataxia type I families. Scheffer, H., Brunt, E.R., Mol, G.J., van der Vlies, P., Stulp, R.P., Verlind, E., Mantel, G., Averyanov, Y.N., Hofstra, R.M., Buys, C.H. Hum. Genet. (1998) [Pubmed]

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