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EpilepsyOntology
Last uploaded:
November 8, 2021
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| Preferred Name | episodic ataxia type 2 | |
| Synonyms |
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| Definitions |
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050990 |
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| created_by |
lschriml
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| creation_date |
2015-10-06T16:26:26Z
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| database_cross_reference |
OMIM:108500
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| fromILAE |
true
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| fromPubMed |
true
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| has_obo_namespace |
disease_ontology
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| hasDefinition |
EA2 is characterised by periods of cerebellar ataxia lasting minutes to hours, which are triggered by physical and emotional stress. Gait and upper limb ataxia may be accompanied by dysarthria, nystagmus, vertigo, nausea and headache. EA2 can be distinguished from seizures by recognition of triggers, family history and retention of awareness during events. EA2 is associated with mutations in the calcium ion channel gene CACNA1A. Variants in this gene are associated with familial hemiplegic migraine and spinocerebellar ataxia type 6 and some phenotypic overlap with these disorders may occur. There may be gaze-evoked nystagmus in between episodes and over time vertical nystagmus may develop.
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| id |
DOID:0050990
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| imported from | ||
| label |
episodic ataxia type 2
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| notation |
DOID:0050990
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| prefLabel |
episodic ataxia type 2
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| 文本定义 |
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
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