Episodic ataxia type 6 (EA6)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Episodic ataxia type 6 (EA6). This is caused by mutations in the SLC1A3 gene on chromosome 5p. Fully referenced neurology checklist.
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
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Variant phenotypes
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Triggers
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Inter-ictal features
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Magnetic resonance imaging (MRI) brain
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Treatment
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References
- Choi KD, Jen JC, Choi SY, et al. Late-onset episodic ataxia associated with SLC1A3 mutation. J Hum Genet 2016; 62:443-446.
- 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.
- 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.
- Pyle A, Smertenko T, Bargiela D, et al. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 2015; 138:276-283.
