Episodic ataxia type 5 (EA5)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Episodic ataxia type 5 (EA5). This is caused by mutations in the CACNB4 gene on chromosome 2q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CACNB4 gene on chromosome 2q
- The onset age is in the third to fourth decades
Clinical features
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Treatment
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References
- Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000; 66:1531-1539.
- Jen JC, Graves TD, Hess EJ, et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130:2484-2493.
