episodic ataxia type 1
episodic ataxia characterized by attacks of ataxia lasting seconds/minutes induced by emotion/stress with myokymia during/between attacks; onset during childhood/adolescence; caused by mutation of KCNA1 encoding voltage-gated potassium channel KV1.1
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episodic ataxia type 1
Summary
episodic ataxia type 1 is a rare disease[1].
Key Facts
- episodic ataxia type 1's instance of is recorded as rare disease[2].
- episodic ataxia type 1's instance of is recorded as class of disease[3].
- episodic ataxia type 1's subclass of is recorded as episodic ataxia[4].
- episodic ataxia type 1's subclass of is recorded as channelopathy[5].
- episodic ataxia type 1's OMIM ID is recorded as 160120[6].
- episodic ataxia type 1's Disease Ontology ID is recorded as DOID:0050989[7].
- episodic ataxia type 1's Orphanet ID is recorded as 37612[8].
- episodic ataxia type 1's genetic association is recorded as KCNA1[9].
- episodic ataxia type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050989[10].
- episodic ataxia type 1's exact match is recorded as http://identifiers.org/doid/DOID:0050989[11].
- episodic ataxia type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_37612[12].
- episodic ataxia type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_972[13].
- episodic ataxia type 1's UMLS CUI is recorded as C1834559[14].
- episodic ataxia type 1's UMLS CUI is recorded as C2674766[15].
- episodic ataxia type 1's UMLS CUI is recorded as C0242287[16].
- episodic ataxia type 1's UMLS CUI is recorded as C1719788[17].
- episodic ataxia type 1's ICD-10-CM is recorded as G11.8[18].
- episodic ataxia type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
- episodic ataxia type 1's Mondo ID is recorded as MONDO_0008047[20].
- episodic ataxia type 1's UniProt disease ID is recorded as DI-00475[21].