Human Disease and Mouse Model Detail
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Human Disease
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Episodic Ataxia, Type 2; EA2
OMIM ID: 108500
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Synonyms
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Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; APCA;
Ataxia, Episodic, with Nystagmus;
Ataxia, Familial Paroxysmal;
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive; CAPA;
Cerebellopathy, Hereditary Paroxysmal;
Episodic Ataxia, Nystagmus-Associated
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Genes and
mouse models
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Mutations in human and/or mouse homologs are associated with this disease
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*Gene is associated with the disease in this species |
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Cacna1a
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CACNA1A*
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1:1 Homology
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Analysis Tools