In recent years, gene therapy has been raising hopes towards viable treatment strategy for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A
gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic …

This educational topical review and Task Force report aims to address learning objectives of
the International League Against Epilepsy (ILAE) curriculum. We sought to extract detailed …

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …

The common age-dependent West syndrome can be diagnosed accurately by
electroencephalogram (EEG), but its pathogenesis and evolution remain unclear. Existing …

Interceding nutrients have been acquiring increased attention and prominence in the field of
healing and deterrence of various disorders. In this light, the present article encompasses …

Objectives Developmental and epileptic encephalopathies (DEEs) are rare
neurodevelopmental disorders characterized by early-onset seizures and numerous …

The KCNA1 gene encodes Kv1. 1 voltage-gated potassium channel α subunits, which are
crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in …

The WAVE regulatory complex (WRC), composed of five components—Cyfip1/Sra1,
WAVE/Scar, Abi, Nap1/Nckap1, and Brk1/HSPC300—is essential for proper actin …

The gene KCNT1 encodes the sodium-activated potassium channel KNa1. 1 (Slack, Slo2.
2). Variants in the KCNT1 gene induce a gain-of-function (GoF) phenotype in ionic currents …