Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Abstract Development in genetic technology has led to the identification of an increasing
number of genes associated with epilepsy. These discoveries will both provide the basis for …

Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial
dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails …

Exome and targeted sequencing have revolutionized clinical diagnosis. This has been
particularly striking in epilepsy and neurodevelopmental disorders, for which new genes or …

Mutations in Kv7. 2 (KCNQ2) and Kv7. 3 (KCNQ3) genes, encoding for voltage-gated K+
channel subunits underlying the neuronal M-current, have been associated with a wide …

Ion channels are crucial in the generation and modulation of excitability in the nervous
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …

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

Summary Gain-of-function (GOF) variants in K+ channels cause severe childhood
epilepsies, but there are no mechanisms to explain how increased K+ currents lead to …

The KCNT1 gene encodes for subunits contributing to the Na+-activated K+ current (K Na),
expressed in many cell types. Mutations in KCNT1 have been found in patients affected with …

Mammalian ether‐à‐go‐go (EAG) channels are voltage‐gated K+ channels. They are
encoded by the KCNH gene family and divided into three subfamilies, eag (Kv10), erg (eag …