Article
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.
Genomics - 1 Jan 1996
Auburger G, Ratzlaff T, Lunkes A, Nelles H W, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte O W, Voit T
Abstract excerpt
Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with...
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