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. 2014 Mar 27;8:82. doi: 10.3389/fncel.2014.00082

Table 2.

Genetic association between ISA subunits and disease/disorders.

Subunit Phenotype Subject Conclusion and analysis method Reference
Kv4.2 Temporal lobe epilepsy Human-Japanese Yes: electrophysiology Singh et al. (2006)
KChIP Ventricular tachycardia Mouse Yes: KChIP2 knockout Kuo et al. (2001)
Pain Mouse Yes: KChIP3 knockout Cheng et al. (2002)
DPP6 Amyotrophic lateral sclerosis Human-multi-ethnic Inconsistent: GWAS analysis SNP analysis CNV association Cronin et al. (2008), van Es et al. (2008), Chio et al. (2009), Li et al. (2009), Blauw et al. (2010), Fogh et al. (2011)
Progressive multiple sclerosis Human-Italian Yes: SNP analysis Brambilla et al. (2012)
Tardive dyskinesia schizophrenia Human-Japanese Yes: GWAS analysis Tanaka et al. (2013)
Autism spectrum disorder Human-multi-ethnic Yes: ID mutations CNV association Marshall et al. (2008), Noor et al. (2010)
Microcephaly Human-Chinese Yes: CNV association Liao et al. (2013)
DPP10 Asthma Human-multi-ethnic Yes: SNP association GWAS analysis Positional cloning Allen et al. (2003), Zhou et al. (2009), Wu et al. (2010), Torgerson et al. (2012)
Autism spectrum disorder Human-mixed Yes: CNV analysis Girirajan et al. (2013)
Bipolar disorder schizophrenia Human-Norwegian Yes: GWAS analysis Djurovic et al. (2010)

GWAS, genome-wide association studies; CNV, copy-number variants; SNP, single-nucleotide polymorphism.