Episodic ataxia type 1 (EA1)

Evidence-based neurology checklist on episodic ataxia type 1 (ea1): Genetic mutations KCNA1 CACNA1 SCN2A Features of ataxia Associated features Triggers for attacks Associated disorders Treatment

Genetic mutations

  • KCNA1
  • CACNA1
  • SCN2A

Features of ataxia

Associated features

Triggers for attacks

Associated disorders

Treatment

References

  1. 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.
  2. Jen JC, Graves TD, Hess EJ, et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130:2484-2493.
  3. Choi KD, Choi JH. Episodic ataxias: clinical and genetic features. J Mov Disord 2016; 9:129-135.
  4. 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. 
  5. 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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