1. Channels Gone Bad Neuron Volume 34, Issue 5, Pages 679-683 (May 2002)
Elias Aizenman, Michael C Sanguinetti 
Neuron 
Volume 34, Issue 5, Pages (May 2002)
DOI: /S (02)

2. Figure 1 Potpourri of Channelopathies
(A) Mouse models are increasingly used to investigate the physiological consequences of mutations in, or knockout of, ion channel genes. For example, mutations in the epithelial Na+ channel ENaC that cause Liddle's syndrome (renal hypertension) in humans can be modeled in transgenic mice (photo provided by B. Rossier). (B) Mutations in the α1A Ca2+ channel cause ataxia and epilepsy in mice (tottering phenotype) and mimic spinocerebellar ataxia in man (photo provided by J. Noebels). (C) Expanded trinucleotide (CAG) repeats in the α1A Ca2+ channel cause spinocerebellar ataxia type 6 (SCA6) in man and are associated with an increase in P/Q-type Ca2+ channel current (Piedras-Renteria et al., 2001; copyright 2001, Society for Neuroscience). (D) Inherited mutations in HERG or KCNQ1 K+ channels cause long QT syndrome and cardiac arrhythmia as depicted in this ECG tracing (provided by M. Vincent). (E and F) Knockout of Cl− channels in mice can lead to severe phenotypes. CLC-7 knockout causes osteopetrosis due to disruption of osteoclast function, mimicking the bone disorder in humans caused by mutations in this gene (Kornak et al., 2001). Knockout of CLC-3 in mice leads to a complete degeneration of the hippocampus (Stobrawa et al., 2001).
Neuron  , DOI: ( /S (02) )