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A novel de novo pathogenic mutation in the CACNA1A gene

✍ Scribed by Fujioka, Shinsuke; Rayaprolu, Sruti; Sundal, Christina; Broderick, Daniel F.; Langley, William A.; Shoffner, John; Hyams, Lauren C.; Rademakers, Rosa; Graff-Radford, Neill R.; Tatum, William; Ross, Owen A.; Wszolek, Zbigniew K.


Book ID
118764304
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
267 KB
Volume
27
Category
Article
ISSN
0885-3185

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De novo mutation in CACNA1A caused aceta
✍ Yue, Qing; Jen, Joanna C.; Thwe, May Myo; Nelson, Stanley F.; Baloh, Robert W. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 13 KB πŸ‘ 2 views

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