The axon initial segment (AIS) is a specialized membrane region in the axon of neurons
where action potentials are initiated. Crucial to the function of the AIS is the presence of …

Voltage-gated ion channels have to be at the right place in the right number to endow
individual neurons with their specific character. Their biophysical properties together with …

Objective Mutations in KCNQ2 and KCNQ3, encoding the voltage‐gated potassium
channels KV7. 2 and KV7. 3, are known to cause benign familial neonatal seizures mainly …

Mutations in the gene encoding the K+ channel KCNQ2 cause neonatal epilepsy and
myokymia, indicating that KCNQ2 regulates the excitability of CNS neurons and motor …

Neuronal Kv7 channels underlie a voltage-gated non-inactivating potassium current known
as the M-current. Due to its particular characteristics, Kv7 channels show pronounced …

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 …

Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant generalized
epilepsy of the newborn infant. Seizures occur repeatedly in the first days of life and remit by …

Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV
7.2 are associated with early onset epilepsy and/or developmental disability, but the …

Seizures are the most common neurological manifestation in the newborn period, with an
estimated incidence of 1.8–3.5 per 1000 live births. Prolonged or intractable seizures have a …

Mutations in the KV7. 2 gene encoding for voltage-dependent K+ channel subunits cause
neonatal epilepsies with wide phenotypic heterogeneity. Two mutations affecting the same …