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
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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
  • 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

Statements

C202603
0 references

Identifiers

 
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