episodic ataxia type 2 (Q2868790)
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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 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
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | episodic ataxia type 2 |
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 |
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C202603
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