KCNQ2


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KCNQ2

A gene on chromosome 20q13.3 that encodes a protein which, with the KCNQ3 protein product, forms the M channel, a slowly activating and deactivating potassium channel central to regulating neuronal excitability.

Molecular pathology
KCNQ3 mutations are associated with benign familial neonatal seizures type 1 (e.g., benign familial neonatal convulsions).
References in periodicals archive ?
The company first entered into a collaboration with the KCNQ2 Cure Alliance to explore a genetic mutation in KCNQ2 epileptic encephalopathy in 2015 and recently renewed the partnership for a second case study.
The KCNQ2 Cure Alliance is an international organization that strives to educate and to advance research leading to treatments or a cure for patients living with the genetic disorder, KCNQ2.
The Alliance supports efforts to raise awareness and improve diagnosis of KCNQ2, educate families and medical professionals about the disease, and advance research leading to improved treatments.
The KCNQ2 Cure Alliance has already made progress in advancing research and education to help patients with this disorder.
With the additional resources now available, the KCNQ2 Cure Alliance intends to fund leading scientists, promote KCNQ2 Cure Awareness Week, beginning March 6, and support the annual Summit planned for Washington DC in October 2016.
KCNQ2 epileptic encephalopathies are caused by mutations in the KCNQ2 gene (also known as the potassium voltage-gated channel, KQT-like subfamily, member 2 gene).
KCNQ2 epileptic encephalopathies are caused by mutations in the KCNQ2 gene (potassium voltage-gated channel, KQT-like subfamily, member 2 gene).
KCNQ2 belongs to a large family of genes that provide instructions for making potassium channels that transport positively charged atoms of potassium into and out of cells, a key role in a cell's ability to generate and transmit electrical signals.
Scotty and husband Jim Johnson launched the KCNQ2 Cure Alliance Foundation with Caroline Loewy, a Silicon Valley bio-medical executive and Sara James, an Emmy award-winning television reporter who now lives in Australia.
In the quest for precision medicine, families have moved from the sidelines to the front lines," says Jim Johnson, President of the KCNQ2 Cure Alliance Foundation.
If we can crack the code of KCNQ2, we change our children's lives and provide vital clues regarding autism and epilepsy.