Results 1 to 10 of about 537,666 (200)

A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder [PDF]

Annals of Indian Academy of Neurology
SCN1A mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of SCN1A mutation is developmental and epileptic encephalopathy-6B (DEE6B).
S. Mohinish, Leema P. Cornelius, Neeraj Elango, Jered K. Livingston   +3 more
doaj   +3 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   +5 more sources

Large-scale structural alteration of brain in epileptic children with SCN1A mutation [PDF]

NeuroImage: Clinical, 2017
Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy ...
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko   +9 more
doaj   +3 more sources

Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report [PDF]

Frontiers in Neurology, 2018
Familial hemiplegic migraine (FHM) is a rare, monogenic, autosomal dominant subtype of migraine, in which three genes, CACNA1A, ATP1A2, and SCN1A, are currently known to be involved.
Na Shao, Haining Zhang, Xue Wang, Wuqiong Zhang, Miaomiao Yu, Hongmei Meng   +5 more
doaj   +4 more sources

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

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

Dravet syndrome: a new causative SCN1A mutation? [PDF]

Clinical Case Reports, 2017
Key Clinical Message Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes ...
Martin Poryo, Oriana Clasen, Barbara Oehl‐Jaschkowitz, Alexander Christmann, Ludwig Gortner, Sascha Meyer   +5 more
doaj   +2 more sources

Effectiveness and safety of cannabidiol in adult patients with epilepsy: A multicenter, retrospective study. [PDF]

Epilepsia Open
Abstract Objective Cannabidiol (CBD) has demonstrated promising effectiveness and tolerability as adjunctive treatment in patients with severe childhood epilepsies. This study investigated the effectiveness and tolerability of CBD in adults with a history of Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), or tuberous sclerosis complex (TSC ...
Sánchez-Gamino S, Chamorro Muñoz MI, Serrano-Castro PJ, Hernández-Vitorique P, Rodríguez Jiménez L, López Moreno Y, Cabezudo-García P, García Martín G.   +7 more
europepmc   +2 more sources

Association of SCN1A Gene Polymorphisms with Sodium Valproate Resistance in Pediatric Epilepsy: A Retrospective Case-Control Study [PDF]

Neuropsychiatric Disease and Treatment
Huiyu Wang,* Tingting Geng,* Na Deng Department of Pediatric Intensive Care Unit, Shiyan Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei Province, People’s Republic of China*These authors contributed equally to this ...
Wang H, Geng T, Deng N
doaj   +2 more sources