Sentrin/small ubiquitin-like modifier (SUMO) is protein modification pathway that regulates
multiple biological processes, including cell division, DNA replication/repair, signal …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial
neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more …

Background We sought to investigate the diagnostic yield and mutation spectrum in
previously reported genes for early-onset epilepsy and disorders of severe developmental …

In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex,
as many metabolic and electro-physiological processes have been implicated in disease …

KCNQ (KV7) potassium channels underlie subthreshold M-currents that stabilize the
neuronal resting potential and prevent repetitive firing of action potentials. Here, antibodies …

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 …

Purpose KCNQ2 mutations have been found in patients with benign familial neonatal
seizures, myokymia, or early onset epileptic encephalopathy (EOEE). In this study, we aimed …

Sudden unexplained death is a catastrophic complication of human idiopathic epilepsy,
causing up to 18% of patient deaths. A molecular mechanism and an identified therapy have …