episodic ataxia type 2
(Q2868790)
episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1
episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1
Language:
Current Data About
episodic ataxia type 2
| (P31) |
(Q55788864)
(Q929833) (Q112193867) |
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| (P279) |
(Q21503282)
(Q2936142) |
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| (P1748) |
C202603
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| (P1995) |
(Q83042)
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| (P2293) |
(Q17854605)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0050990
http://identifiers.org/doid/DOID:0050990
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| (P5008) |
(Q4099686)
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other details
| aliases |
Episodic ataxia type 2 EPISODIC ATAXIA, TYPE 2 Ataxia, Episodic, With Nystagmus Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive EA2 Ataxia, Familial Paroxysmal Cerebellopathy, Hereditary Paroxysmal Familial paroxysmal ataxia Episodic Ataxia, Nystagmus-Associated EPISODIC ATAXIA, TYPE 2; EA2 |
| description | episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1 |
External Links
| (P486) |
C535506
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| (P492) |
108500
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| (P494) |
G11.8
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| (P699) |
DOID:0050990
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| (P1550) |
97
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| (P2892) |
C1720416
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| (P3201) |
10062002
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| (P4229) |
G11.8
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| (P4317) |
9602
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| (P5270) |
MONDO_0007163
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| (P11430) |
DI-00476
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