EA8

Chr 1AD

Episodic ataxia, type 8

Primary Disease Associations & Inheritance

Episodic ataxia, type 8MIM #616055
AD
1
Active trials
0
Pathogenic / LP
0
ClinVar variants
2
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryEA8
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EA8?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

EA8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found