Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677843
Disease: Episodic Ataxia, Type 7
Episodic Ataxia, Type 7
0.010 GeneticVariation disease BEFREE Since the identification more than a decade ago of the genetic causes of episodic ataxia type 1 with myokymia caused by KCNA1 mutations and episodic ataxia type 2 with nystagmus caused by CACNA1A mutations, the list of episodic ataxia syndromes with distinct clinical features and genetic loci is slowly expanding, now up to episodic ataxia type 7. 18180645 2008