Episodic ataxias as channelopathies
β Scribed by Robert C. Griggs; John G. Nutt
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 348 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0364-5134
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## Abstract We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a fourβnucleotide GAGT deletion at IVS41+(3β6) and a single nucleotide insertion (insT) at IVS24+3. We expressed minigenes harboring the mutations in cell lines to demonstrate exon skipping from the deletion
With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we investigated a patient with nonfamilial episodic vertigo and ataxia responsive to acetazolamide for similar mutations. Singlestrand conformation polymorphism (SSCP) analysis of exo