Episodic ataxia type 1 (EA1)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Episodic ataxia type 1 (EA1). KCNA1, CACNA1, SCN2A. Fully referenced neurology checklist.
Genetic mutations
- KCNA1
- CACNA1
- SCN2A
Features of ataxia
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Associated features
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Triggers for attacks
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Associated disorders
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Treatment
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References
- Gasser T, Finstererb J, Baetsc J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010, 17:179–188.
- Jen JC, Graves TD, Hess EJ, et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130:2484-2493.
- Choi KD, Choi JH. Episodic ataxias: clinical and genetic features. J Mov Disord 2016; 9:129-135.
- Graves TD, Cha YH, Hahn AF, et al; CINCH Investigators. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain 2014; 137:1009-1018.
- Leach EL, van Karnebeek CD, Townsend KN, Tarailo-Graovac M, Hukin J, Gibson WT. Episodic ataxia associated with a de novo SCN2A mutation. Eur J Paediatr Neurol 2016; 20:772-776.
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