Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

@article{Spacey2005TwoNC,
  title={Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.},
  author={Si{\^a}n D Spacey and Luke A Materek and Blajez I Szczygielski and Thomas D. Bird},
  journal={Archives of neurology},
  year={2005},
  volume={62 2},
  pages={314-6}
}
BACKGROUND Episodic ataxia type 2 (EA2) is an autosomal dominant condition that results from mutations in the CACNA1A gene. It is characterized by episodes of ataxia and nystagmus that typically last hours. OBJECTIVE To describe the clinical and genetic features of 2 unrelated patients who developed EA2 in childhood and late-onset dystonia. DESIGN Pedigree study. SETTING University academic teaching hospital. PATIENTS Two unrelated patients with childhood-onset EA2 and adult-onset… CONTINUE READING