Results 41 to 50 of about 8,423 (186)

Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development

, 2017
Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy along with delayed psychomotor development and heightened premature mortality. A primary monogenic cause is mutation of the SCN1A gene, which encodes the voltage-gated sodium
李立仁;林淑華;劉宏輝, Tsai, Ming-Shian;Lee, Meng-Larn;Chang, Chun-Yun;Fan, Hsiang-Hsuan;Yu, I-Shing;Chen, You-Tzung;You, Jhih-Yi;Chen, Chun-Yu;Chang, Fang-Chia;Hsiao, Jane H.;Khorkova, Olga;Liou, Horng-Huei;Yanagawa, Yuchio;Lee, Li-Jen;Lin, Shu-Wha   +1 more
core   +1 more source

Sex differences in cardiac mitochondrial respiration and reactive oxygen species production may predispose Scn1a−/+ mice to cardiac arrhythmias and Sudden Unexpected Death in Epilepsy

Journal of Molecular and Cellular Cardiology Plus
Dravet Syndrome (DS) is a pediatric-onset epilepsy with an elevated risk of Sudden Unexpected Death in Epilepsy (SUDEP). Most individuals with DS possess mutations in the voltage-gated sodium channel gene Scn1a, expressed in both the brain and heart ...
Jessa L. Aldridge, Emily Davis Alexander, Allison A. Franklin, Elizabeth Harrington, Farah Al-Ghzawi, Chad R. Frasier   +5 more
doaj   +1 more source

Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility

Neurobiology of Disease, 2013
Voltage-gated sodium channels (VGSCs) are essential for the generation and propagation of action potentials in electrically excitable cells. Dominant mutations in SCN1A, which encodes the Nav1.1 VGSC α-subunit, underlie several forms of epilepsy ...
Stacey B. Dutton, Christopher D. Makinson, Ligia A. Papale, Anupama Shankar, Bindu Balakrishnan, Kazu Nakazawa, Andrew Escayg   +6 more
doaj   +1 more source

Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece

, 2016
Introduction : The aim was to examine the influence of the SCN1A gene polymorphism IVS5-91 rs3812718 G>A on the response to antiepileptic drugs (AEDs) in monotherapy or polytherapy.
Christina Angelopoulou, Chrysa Stathi, Ioannis Heliopoulos, Charitomeni Piperidou, Stavroula Veletza, Grigorios Tripsianis, Konstantinos Vadikolias   +6 more
core   +1 more source

SCN1A-related epilepsy with recessive inheritance: Two further families

, 2021
International audienceBACKGROUND: Variants in SCN1A gene, encoding the voltage-gated sodium channel Nav1.1, are associated with distinct epilepsy syndromes ranging from the relatively benign genetic epilepsy with febrile seizures plus (GEFS+) to Dravet ...
Moreau, Patricia, Mignot, Cyril, Des Portes, Vincent, Keren, Boris, Bouteiller, Delphine, Trouillard, Oriane, Leguern, Eric, Depienne, Christel, Toulouse, Joseph, Rastetter, Agnès, Arnaud, Lionel, Nava, Caroline, Gourfinkel-An, Isabelle, Moretti, Raffaella, Buratti, Julien   +14 more
core   +1 more source

Encephalopathy and SCN1A mutations

, 2011
We describe three children with genetically different sodium channel alpha 1 subunit (SCN1A) mutation associated epilepsy who experienced a sudden and sustained neurologic regression following status epilepticus in two and acute sepsis in one ...
Ata Siddiqui, Shan Tang, Lin, Jean-Pierre, Hughes, Elaine, Jean Pierre Lin, Tang, Shan, Lascelles, Karine, Lim, Ming, Elaine Hughes, Ming Lim, Karine Lascelles, Siddiqui, Ata   +11 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Genetic epilepsy with febrile seizures plus (GEFS+)

Эпилепсия и пароксизмальные состояния, 2020
Febrile seizures (FS) occur in about 2–3% of children aged 3 months to 5 years. Atypical febrile seizures are those with a focal component. Each subsequent febrile attack increases the risk of transformation into epilepsy. After the third febrile seizure,
A. A. Sharkov
doaj   +1 more source

Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line

Stem Cell Research, 2021
The SCN1A gene encodes the voltage-gated Na+ channel alpha subunit Nav1.1 and is the most clinically relevant epilepsy gene. Variants in SCN1A result in a broad phenotypic spectrum of epilepsy syndromes, from mild genetic epilepsy with febrile seizures ...
Wei Shan, Xiaoling Yang, Qian Ren, Qun Wang   +3 more
doaj   +1 more source

Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats [PDF]

, 2020
This study aimed to examine the effects of Cacna1a mutation on the phenotype of Scn1a-associated epilepsy in rats. We used rats with an N1417H missense mutation in the Scn1a gene and others with an M251K mutation in the Cacna1a gene. Scn1a/Cacna1a double
Kobayashi, Kiyoka, Ouchida, Mamoru, Ohmori, Iori   +2 more
core   +2 more sources