In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

Gene–environment interactions begin at conception to influence maternal/placental/fetal
triads, neonates, and children with short-and long-term effects on brain development. Life …

Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Channelopathies are disorders caused by abnormal ion channel function in differentiated
excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting …

Interpretation of the colossal number of genetic variants identified from sequencing
applications is one of the major bottlenecks in clinical genetics, with the inference of the …

TREK-1 is the most studied background K2P channel. Its main role is to control cell
excitability and maintain the membrane potential below the threshold of depolarization …

Epidemiological estimates indicate that individuals with epilepsy are more likely to
experience headaches, including migraine, than individuals without epilepsy. Headaches …

Background Neuropathic pain is common in peripheral neuropathy. Recent genetic studies
have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain …

The cation channel transient receptor potential vanilloid 4 (TRPV4) is one of the few
identified ion channels that can directly cause inherited neurodegeneration syndromes, but …

Transient receptor potential (TRP) channels are a superfamily of cation transmembrane
proteins that are expressed in many tissues and respond to many sensory stimuli. TRP …