Episodic ataxia (EA) summary of key features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Episodic ataxia (EA) summary of key features. This is caused by mutations in the KCNA1 gene. Fully referenced neurology checklist.
EA1
- This is caused by mutations in the KCNA1 gene
- The episodes last seconds to minutes
- There is inter-ictal nystagmus
- It is associated with epilepsy and malignant hyperthermia
EA2
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EA3
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EA4
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EA5
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EA6
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EA7
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EA8
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EA9
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Newer genes
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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.
- Corbett MA, Bellows ST, Li M, et al. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology 2016; 87:1975-1984.
- Lyu H, Boßelmann CM, Johannesen KM, et al. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia. EBioMedicine 2023; 98:104855.
