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

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1),
have been associated with a spectrum of epilepsies and neurodevelopmental disorders …

A number of mutations to members of several CNS potassium (K) channel families have
been identified which result in rare forms of neonatal onset epilepsy, or syndromes of which …

Our current knowledge of genetically determined forms of epilepsy has shortened the
diagnostic pathway usually experienced by the families of infants diagnosed with early …

Malignant migrating partial seizure of infancy (MMPSI) is a devastating and
pharmacoresistant form of infantile epilepsy. MMPSI has been linked to multiple gain-of …

Aims Despite numerous studies on quinidine therapies for epilepsies associated with
KCNT1 gene mutations, there is no consensus on its clinical utility. Thus, we reviewed …

Objective KCNT1‐related epilepsies encompass three main phenotypes:(i) epilepsy of
infancy with migrating focal seizures (EIMFS),(ii) autosomal dominant or sporadic sleep …

Gain-of-function (GOF) pathogenic variants of KCNT1, the gene encoding the largest known
potassium channel subunit, K Na 1.1, are associated with developmental and epileptic …

Neurodevelopmental disorders can be caused by mutations in neuronal genes fundamental
to brain development. These disorders have severe symptoms ranging from intellectually …