Thomas J. Jentsch

TL;DR: The loss of distinct Cl- channels leads to an impairment of transepithelial transport in cystic fibrosis and Bartter's syndrome, to increased muscle excitability in myotonia congenita, to reduced endosomal acidification and impaired endocytosis in Dent's disease, and to impaired extracellular acidification by osteoclasts and osteopetrosis.

TL;DR: Impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.

TL;DR: It is concluded that ClC-7 provides the chloride conductance required for an efficient proton pumping by the H(+)-ATPase of the osteoclast ruffled membrane.

TL;DR: A novel member of the KCNQ branch of the K+ channel gene family, cloned, which maps to the DFNA2 locus for a form of nonsyndromic dominant deafness and abolishes the potassium currents of wild-typeKCNQ4 on which it exerts a strong dominant-negative effect.

TL;DR: In this article, mutations in four out of five KCNQ genes underlie diseases including cardiac arrhythmias, deafness and epilepsy, and provide a model for the study of the "safety margin" that separates normal from pathological levels of channel expression.