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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618924
http://purl.bioontology.org/ontology/OMIM/618924
|
|---|---|
| Preferred Name | EPISODIC ATAXIA, TYPE 9 |
| Synonyms |
EA9
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | EA9
|
|---|---|
| prefLabel | EPISODIC ATAXIA, TYPE 9
|
| Gene Symbol |
BFIS3
BFNIS
SCN2A
SCN2A1
BFIC3
DEE11
EA9
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| Scope Statement | Onset of ataxia in the first few years of life [MISCELLANEOUS]
Caused by mutation in the sodium channel, voltage-gated, type II, alpha subunit gene (SCN2A, 182390.0011) [MOLECULAR BASIS]
Episodes usually last minutes to hours [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Longer duration has been reported [MISCELLANEOUS]
Favorable response of ataxia to acetazolamide (in about 50% of patients) [MISCELLANEOUS]
Episodes show variable frequency (days, weeks, months, years) [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 2q23-q24.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618924
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394520
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |