Table I. Diseases that were discussed at the meeting and have a known ion channel link.
| Channel type | Gene | Channelopathy and phenotype | Reference |
|---|---|---|---|
| K+ channel |
KCNA1 KCNH1 (hEAG) KCNJ11 KCNQ2/3 KCNQ4 SUR1 |
episodic ataxia type 1 (EA-1)oncogenic potentialpersistent hyperinsulinaemic hypoglycaemia of infancy (PHHI)benign familial neonatal convulsions (BFNC)hereditary hearing loss (DFNA2)persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) |
Browne et al. (1994) Pardo et al. (1999) Inagaki et al. (1995) Singh et al. (1998) Charlier et al. (1998) Kubisch et al. (1999) Thomas et al. (1995) |
| Na+ channel |
SCNN1(ENaC) SCN4A SCN1B |
Liddle’s syndrome (heriditary hypertension, pseudohypoaldosteronism type 1)hyperkalaemic periodic paralysis,hypokalaemic periodic paralysis,paramytonia congenitageneralized epilepsy with febrile seizures type 1 |
Chang et al. (1996) Fontaine et al. (1990) Bulman et al. (1999) Ptacek et al. (1992) Wallace et al. (1998) |
| Ca2+ channel |
CACNA1A CACNA1 SRYR1 CAT-L CAT-L |
episodic ataxia type 2, familial hemiplegic migraine, spinocerebellar ataxia type 6hypokalaemic periodic paralysismalignant hyperthermia, central core disease expressed in advanced prostate cancer |
Ophoff et al. (1996) Zhuchenko et al. (1997) Ptacek et al. (1994) Quane et al. (1993) Zhang et al. (1993) Wissenbach et al. (2001) |
| Glycine receptor |
GLRA1 |
hyperplexia |
Shiang et al. (1993) |
| Acetylcholine receptor |
CHRNA1 CHRNA4 |
congenital myastheniaautosomal dominant nocturnal frontal lobe epilepsy |
Sine et al. (1995) Steinlein et al. (1995) |
| CNG channels |
CNGA3 CNGB3 |
achromatopsia-2achromatopsia-3 |
Kohl et al. (1998) Kohl et al. (2000) |
| Cl– channel | CLCN1 CLCN5 CLCN7 | myotonia congenita (dominant or recessive)Dent’s disease (proteinuria and hypercalciuria)osteopetrosis | Koch et al. (1992) Fisher et al. (1994) Kornak et al. (2001) |
References are to publications that make the initial link. Further information can be found at: http://www.neuro.wustl.edu/neuromuscular/mother/chan.html and http://www.nc bi.nlm.nih.gov/omim/ or in Ion Channels and Disease (2000) by F.M. Ashcroft, Academic Press or Channelopathies (2000) by F. Lehmann-Horn and K. Jurkat-Rott (eds), Elsevier.