Results 11 to 20 of about 8,423 (186)

Expanding spectrum of SCN1A-related phenotype with novel mutations [PDF]

The Turkish Journal of Pediatrics, 2017
Mutations in the genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes, with most of the mutations occurring in SCN1A gene. It is one of the most well-researched epilepsy genes.
Semra Hız-Kurul, Semra Gürsoy, Müge Ayanoğlu, Uluç Yiş, Derya Erçal   +4 more
doaj   +2 more sources

Data on mutations and Clinical features in SCN1A or SCN2A gene

Data in Brief, 2019
Mutations in SCN1A and SCN2A are associated with a wide spectrum of epilepsy related disorders in human. This dataset presented variants and clinical features of SCN1A and SCN2A genes.
Yanting Kong, Kai Yan, Liyuan Hu, Mingbang Wang, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, Lin Yang, Wenhao Zhou   +9 more
doaj   +2 more sources

SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction [PDF]

Frontiers in Neurology, 2023
The SCN1A gene is strongly associated with epilepsy and plays a central role for supporting cortical excitation-inhibition balance through the expression of NaV1.1 within inhibitory interneurons.
Alexander Bryson, Steven Petrou, Steven Petrou   +2 more
doaj   +2 more sources

The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan

Therapeutics and Clinical Risk Management, 2018
Haleema Rehana Nazish,1 Niaz Ali,1 Shakir Ullah1,2 1Institute of Basic Medical Science, Khyber Medical University, Peshawar, Khyber Pakhtunkhwa, Pakistan; 2Center for Neuroscience, Shantou University Medical College, Shantou, Guangdong 515041, People ...
Nazish HR, Ali N, Ullah S
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy. [PDF]

Ann Clin Transl Neurol
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Saravanan A, Safran J, Loughman A, Lin G, Vaid S, Allababidi D, Tessier PM, Dang LT.   +7 more
europepmc   +2 more sources

Rewriting SCN1A: Genome Editing for Genetic Epilepsies. [PDF]

Epilepsy Curr
Prime editing of a pathogenic Scn1a allele ameliorates seizure phenotypes in a GEFS(+) mouse model
Dow SA, Bedrosian TA.
europepmc   +2 more sources

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics. [PDF]

Epilepsia Open
This graphical abstract provides an overview of the content from this post hoc analysis evaluating the efficacy and safety of fenfluramine in patients with Dravet syndrome stratified by age, number of previously attempted antiseizure medications, and SCN1A pathogenic variant status using data pooled from the three pivotal randomized controlled trials ...
Nabbout R, Sullivan J, Auvin S, Cross JH, Devinsky O, Gil-Nagel A, Guerrini R, Knupp KG, Perry MS, Sánchez-Carpintero R, Schoonjans AS, Scheffer IE, Specchio N, Strzelczyk A, Wheless J, Wirrell EC, Morita D, Healy P, Langlois M, Lothe A, Lagae L.   +20 more
europepmc   +2 more sources

Computational protein stability analysis of SCN1A missense variants reveals domain-dependent stability patterns. [PDF]

Epilepsia Open
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Shim Y, Kang E, Kwak N, Kim S.
europepmc   +2 more sources

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity. [PDF]

Epilepsia Open
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Seyedtaghia MR, Babanzadeh J, Scala M, Perilli L, Striano P.   +4 more
europepmc   +2 more sources

A novel SCN1A mutation: A case report

Journal of Pediatric Neurosciences, 2020
Introduction: Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered by fire have been gradually decreased over time, and finally they
Mahmut Aslan, Bilge Ozgor, Serkan Kirik, Serdal Gungor   +3 more
doaj   +1 more source