Table of Contents
What does Kcnq stand for?
potassium voltage-gated channel subfamily Q member 1.
What is KCNQ2 mutation?
KCNQ2-Developmental and Epileptic Encephalopathy In most cases, the KCNQ2 mutation leads to decreased activity of the ion channel; in other cases, the mutation leads to over activity of the ion channel. Changes in the flow of potassium ions in the brain causes epilepsy and associated developmental differences.
What do KCNQ channels do?
Neural KCNQ channels control somatic excitability, bursting and neurotransmitter release throughout the nervous system. Their activity is regulated by multiple signaling pathways.
What is de novo in genetics?
A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant.
How do sodium ion channels work?
Sodium channels play a central role in physiology: they transmit depolarizing impulses rapidly throughout cells and cell networks, thereby enabling co-ordination of higher processes ranging from locomotion to cognition. These channels are also of special importance for the history of physiology.
What chromosome is KCNQ2 on?
human chromosome 7
By PCR analysis of a somatic cell hybrid panel, Warmke and Ganetzky (1994) localized the KCNH2 gene to human chromosome 7.
What is sodium channel mutation?
Children with mutations in SCN1A, a sodium channel that works in neurons that dampen brain activity, have a severe form of epilepsy called Dravet syndrome and, sometimes, autism. In a study published in December, researchers found a mutation in another sodium channel gene, called SCN9A, in one individual with autism.
What happens when your sodium channels are blocked?
Complete block of sodium channels would be lethal. However, these drugs selectively block sodium channels in depolarized and/or rapidly firing cells, such as axons carrying high-intensity pain information and rapidly firing nerve and cardiac muscle cells that drive epileptic seizures or cardiac arrhythmias.
What chromosome is kcnq2 on?
What is epileptic encephalopathy?
Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills.
What is SCN5A mutation?
The SCN5A gene mutations change single amino acids in the SCN5A protein. Channels made with this altered protein allow little or no sodium to enter the cell. Cardiac cells with these altered channels have difficulty producing and transmitting electrical signals that coordinate normal heartbeats.
What does SCN5A stand for?
SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) is a Protein Coding gene. Diseases associated with SCN5A include Sudden Infant Death Syndrome and Long Qt Syndrome 3.