[HTML][HTML] SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis
J Ding, X Li, H Tian, L Wang, B Guo, Y Wang… - Frontiers in …, 2021 - frontiersin.org
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 …
gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic …
[HTML][HTML] Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord
TL Jensen, CR Gøtzsche… - Frontiers in molecular …, 2021 - frontiersin.org
In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …
rare genetic diseases for which there has been almost exclusively supportive treatment. We …
Seizure semiology: ILAE glossary of terms and their significance
S Beniczky, WO Tatum, H Blumenfeld… - Epileptic …, 2022 - Wiley Online Library
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 …
the International League Against Epilepsy (ILAE) curriculum. We sought to extract detailed …
Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine
S Schubert-Bast, A Strzelczyk - Therapeutic advances in …, 2021 - journals.sagepub.com
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 …
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …
Scalp EEG functional connection and brain network in infants with west syndrome
The common age-dependent West syndrome can be diagnosed accurately by
electroencephalogram (EEG), but its pathogenesis and evolution remain unclear. Existing …
electroencephalogram (EEG), but its pathogenesis and evolution remain unclear. Existing …
[HTML][HTML] Impact of developmental and epileptic encephalopathies on caregivers: A literature review
K Gallop, AJ Lloyd, J Olt, J Marshall - Epilepsy & Behavior, 2021 - Elsevier
Objectives Developmental and epileptic encephalopathies (DEEs) are rare
neurodevelopmental disorders characterized by early-onset seizures and numerous …
neurodevelopmental disorders characterized by early-onset seizures and numerous …
[HTML][HTML] Immune modulatory effects of ketogenic diet in different disease conditions
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 …
healing and deterrence of various disorders. In this light, the present article encompasses …
[HTML][HTML] Orchestration of synaptic functions by WAVE regulatory complex-mediated actin reorganization
The WAVE regulatory complex (WRC), composed of five components—Cyfip1/Sra1,
WAVE/Scar, Abi, Nap1/Nckap1, and Brk1/HSPC300—is essential for proper actin …
WAVE/Scar, Abi, Nap1/Nckap1, and Brk1/HSPC300—is essential for proper actin …
[HTML][HTML] Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy
K Paulhus, E Glasscock - International Journal of Molecular Sciences, 2023 - mdpi.com
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 …
crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in …
Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series
AM Griffin, KM Kahlig, RJ Hatch… - ACS Medicinal …, 2021 - ACS Publications
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 …
2). Variants in the KCNT1 gene induce a gain-of-function (GoF) phenotype in ionic currents …