About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: Episodic Ataxia, Type 2; EA2
OMIM ID: 108500

Synonyms 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
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Cacna1a CACNA1A
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory