Results 51 to 60 of about 537,666 (200)

Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

Annals of Indian Academy of Neurology, 2011
Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described.
Meral Özmen, Cengiz Dilber, Burak Tatli, Nur Aydinli, Mine Çaliskan, Baris Ekici   +5 more
doaj   +1 more source

Features of epileptic encephalopathy caused by SCN1A mutation

INTERNATIONAL NEUROLOGICAL JOURNAL, 2023
Background. The development and availability of genetic research open both new possibilities in the diagnosis of epileptic encephalopathies and require the search for correlations between detected pathological mutation and the clinical and instrumental examination of a child.
L.G. Kyrylova, O.O. Yuzva, O.O. Miroshnikov, O.V. Berehela   +3 more
openaire   +1 more source

Methylphenidate improves learning impairments and hyperthermia-induced seizures caused by an Scn1a mutation. [PDF]

, 2014
Developmental disorders including cognitive deficit, hyperkinetic disorder, and autistic behaviors are frequently comorbid in epileptic patients with SCN1A mutations.
Masato Asanuma, Miyazaki, Ikuko, Haijiao Wang, Mamoru Ouchida, Asanuma, Masato, Ikuko Miyazaki, Tomoji Mashimo, Michiue, Hiroyuki, Hideki Matsui, Iori Ohmori, Sumei Liu, Wang, Haijiao, Ouchida, Mamoru, Ohmori, Iori, Nozomi Kawakami, Matsui, Hideki, Liu, Sumei, Mashimo, Tomoji, Kawakami, Nozomi, Hiroyuki Michiue   +19 more
core   +1 more source

Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient

Journal of Pediatric Neurosciences, 2012
In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with
Emmilia H Tan, Abdul Aziz M Yusoff, Jafri M Abdullah, Salmi A Razak   +3 more
doaj   +1 more source

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

PLoS Genetics, 2021
Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease ...
Yuliya Voskobiynyk, Gopal Battu, Stephanie A Felker, J Nicholas Cochran, Megan P Newton, Laura J Lambert, Robert A Kesterson, Richard M Myers, Gregory M Cooper, Erik D Roberson, Gregory S Barsh   +10 more
doaj   +1 more source

Sodium channelSCN1Aand epilepsy: Mutations and mechanisms [PDF]

Epilepsia, 2010
SummaryMutations in a number of genes encoding voltage‐gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, severe myoclonic epilepsy of infancy). Most of these mutations are in theSCN1Agene, and all are dominantly inherited.
Andrew, Escayg, Alan L, Goldin
openaire   +2 more sources

Mutation of the SCN1A gene - genetic cause of epilepsy [PDF]

, 2015
Voltažno ovisni natrijski kanali sudjeluju u ekscitabilnosti neurona, nužni su za inicijaciju i propagaciju akcijskog potencijala u neuronima. Mutacija SCN1A gena (engl.
Radić Nišević, Jelena, Prpić, Igor, Sasso, Antun   +2 more
core   +2 more sources

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy

Frontiers in Neuroscience, 2023
Developmental and epileptic encephalopathies (DEEs) are severe seizure disorders with inadequate treatment options. Gain- or loss-of-function mutations of neuronal ion channel genes, including potassium channels and voltage-gated sodium channels, are ...
Sophie F. Hill, Sophie F. Hill, Paymaan Jafar-Nejad, Frank Rigo, Miriam H. Meisler, Miriam H. Meisler, Miriam H. Meisler   +6 more
doaj   +1 more source

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation

Neurobiology of Disease, 2020
Over 1250 mutations in SCN1A, the Nav1.1 voltage-gated sodium channel gene, are associated with seizure disorders including GEFS+. To evaluate how a specific mutation, independent of genetic background, causes seizure activity we generated two pairs of ...
Yunyao Xie, Nathan N. Ng, Olga S. Safrina, Carmen M. Ramos, Kevin C. Ess, Philip H. Schwartz, Martin A. Smith, Diane K. O'Dowd   +7 more
doaj   +1 more source

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