Article
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
Annals of neurology - 1 Dec 2003
Subramony S H, Schott Kelly, Raike Robert S, Callahan Joel, Langford Leigh R, Christova Peka S, Anderson John H, Gomez Christopher M
Abstract excerpt
Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A. Ataxic spells lasting minutes to hours are provoked by stress, exercise, or alcohol. Some patients exhibit nystagmus between spells and some develop progressive ataxia later in life. At least 21 distinct...
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