Episodic ataxia type 8 (EA8)

Evidence-based neurology checklist on episodic ataxia type 8 (ea8): Genetics This is caused by mutations in the UBR4 gene It is related to chromosome 1p The onset is in the second year of life Attack frequency Clinical features Inter-ictal features Triggers Treatment

Genetics

  • This is caused by mutations in the UBR4 gene
  • It is related to chromosome 1p
  • The onset is in the second year of life

Attack frequency

Clinical features

Inter-ictal features

Triggers

Treatment

References

  1. Conroy J, McGettigan P, Murphy R, et al. A novel locus for episodic ataxia: UBR4 the likely candidate. Eur J Hum Genet 2014; 22:505-510.
  2. Jen JC, Graves TD, Hess EJ, et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130:2484-2493.

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