Episodic ataxia type 6 (EA6)

Evidence-based neurology checklist on episodic ataxia type 6 (ea6): Genetics This is caused by mutations in the SLC1A3 gene on chromosome 5p The gene encodes the glutamate transporter EAAT1 The mutation impairs glutamate uptake The onset age is the first to second decades The episodes last 2-3…

Genetics

  • This is caused by mutations in the SLC1A3 gene on chromosome 5p
  • The gene encodes the glutamate transporter EAAT1
  • The mutation impairs glutamate uptake
  • The onset age is the first to second decades
  • The episodes last 2-3 hours
  • The severity may worsen with age

Clinical features

Variant phenotypes

Triggers

Inter-ictal features

Magnetic resonance imaging (MRI) brain

Treatment

References

  1. Choi KD, Jen JC, Choi SY, et al. Late-onset episodic ataxia associated with SLC1A3 mutation. J Hum Genet 2016; 62:443-446.
  2. Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005; 65:529-534.
  3. de Vries B, Mamsa H, Stam AH, et al. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol 2009; 66:97-101.
  4. Pyle A, Smertenko T, Bargiela D, et al. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 2015; 138:276-283. 

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