Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Abstract Potassium channels (K+-channels) selectively control the passive flow of potassium
ions across biological membranes and thereby also regulate membrane excitability. Genetic …

The voltage-gated potassium (Kv) channels, encoded by 40 genes, repolarize all electrically
excitable cells, including plant, cardiac, and neuronal cells. Although these genes were fully …

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …

The increase of HSPs and HCAs-related phenotypes and the continuous discovery of genes
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …

With the development and application of next‐generation sequencing technology, the
aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive …

Next-generation sequencing has enhanced discovery of many disease-associated genes in
previously unexplained epilepsies, mainly in developmental and epileptic encephalopathies …

De novo heterozygous variants in KCNC2 encoding the voltage-gated potassium (K+)
channel subunit Kv3. 2 are a recently described cause of developmental and epileptic …

Voltage-gated potassium channels (Kv) are tetrameric membrane proteins that provide a
highly selective pathway for potassium ions (K+) to diffuse across a hydrophobic cell …

Voltage-gated potassium channels play a key role in human physiology and pathology.
Reflecting their importance, numerous channelopathies have been characterised that arise …