IndraLab

Statements

Mutated KCNQ1 activates JLNS. 3 / 3
| 3
reach
"The disruption of potassium secretion into the endolymph of the inner ear in JLNS by knockout or mutation of MinK is accepted to be due to dysfunction of MinK-KCNQ1 complexes in the ear, especially as KCNQ1 mutations can also cause JLNS, but the LQTS component could be also caused by dysfunction of other channels that MinK may associate with in the heart, including ERG."
19219384
reach
"A novel homozygous KVLQT1 mutation causes JLNS in an Amish family with deafness that is inherited as an autosomal recessive trait."
10077519
reach
"The results expand the spectrum of KCNQ1 mutations causing RWS and JLNS."
18400097