Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation
of action potentials in excitable cells. VGSCs in mammalian brain are heterotrimeric …

Objectives To describe the antiepileptic drug (AED) treatment of patients with early infantile
epileptic encephalopathy due to KCNQ 2 mutations during the neonatal phase and the first …

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 …

The last decade saw impressive advances not only in the discovery of gene mutations
causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical …

Voltage-gated sodium channels (VGSCs) are fundamentally important for the generation
and coordinated transmission of action potentials throughout the nervous system. It is …

Objective We performed targeted gene-panel sequencing for children with developmental
and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype …

Dravet syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the
SCN1A gene encoding the α subunit of the NaV1. 1 voltage-gated sodium channel that …

Voltage-gated sodium channels are protein complexes comprised of one pore forming α
subunit and two, non-pore forming, β subunits. The voltage-gated sodium channel β …

Voltage-gated sodium channel β1 and β2 subunits were discovered as auxiliary proteins
that co-purify with pore-forming α subunits in brain. The other family members, β1B, β3, and …