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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612656
http://purl.bioontology.org/ontology/OMIM/612656
|
|---|---|
| Preferred Name | EPISODIC ATAXIA, TYPE 6 |
| Synonyms |
EA6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | EA6
|
|---|---|
| prefLabel | EPISODIC ATAXIA, TYPE 6
|
| Gene Symbol |
SLC1A3
EA6
EAAT1
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Caused by mutation in the solute carrier family 1 (glial high affinity glutamate transporter), member 3 gene (SLC1A3, 600111.0001) [MOLECULAR BASIS]
Variable phenotype and severity [MISCELLANEOUS]
Favorable response to treatment with acetazolamide [MISCELLANEOUS]
Three unrelated families have been reported (last curated November 2016) [MISCELLANEOUS]
Episodes may last several hours [MISCELLANEOUS]
Later onset has been reported [MISCELLANEOUS]
Episodes triggered by fever, illness, feeding, stress, exercise [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612656
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2675211
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |