A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

  title={A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.},
  author={Joanna C Jen and Qing Hong Yue and Stanley F. Nelson and Hong Yu and M. Litt and Jay Nutt and Robert W. Baloh},
  volume={53 1},
OBJECTIVE To identify the disease-causing mutation and to characterize penetrance and phenotypic variability in a large pedigree with episodic ataxia type 2 (EA-2) previously linked to chromosome 19. BACKGROUND Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abnormalities. METHODS The authors used single-strand conformation polymorphism (SSCP) analysis to… CONTINUE READING


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