Zobrazeno 1 - 10
of 2 364
pro vyhledávání: '"SCN1A"'
Autor:
Cathrine E. Gjerulfsen, Marina Nikanorova, Kern Olofsson, Cecilie Johannessen Landmark, Guido Rubboli, Rikke S. Møller
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1891-1900 (2024)
Abstract Objectives Dravet syndrome is a developmental and epileptic encephalopathy characterized by early onset epilepsy with multiple seizure types often intractable to treatment. Randomized clinical trials have demonstrated how treatment with fenf
Externí odkaz:
https://doaj.org/article/cd42356d77534386b3d379ea26529632
Publikováno v:
Annals of Indian Academy of Neurology, Vol 27, Iss 4, Pp 352-357 (2024)
Dravet syndrome (DS) is a developmental epileptic encephalopathy, characterized by fever-triggered focal or hemiclonic seizures at onset with various associated comorbidities like intellectual disability, gait abnormalities, and behavioral issues. It
Externí odkaz:
https://doaj.org/article/df08e76c5fc348efbd377d1d782bce5d
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 16, Iss 2, Pp 130-136 (2024)
A clinical observation of a patient with Dravet syndrome caused by SCN1A gene mutation is presented. Dravet syndrome is a severe epileptic encephalopathy that occurs in early childhood, accompanied by seizure polymorphism, drug-resistant course and s
Externí odkaz:
https://doaj.org/article/19fb025abb994b6b8df9a5072ab49787
Autor:
Joanne C. Hall, Shahid Bashir, Melissa Tsuboyama, Raidah Al‐Bradie, Ali Mir, Mona Ali, Annapurna Poduri, Alexander Rotenberg
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 2, Pp 92-105 (2024)
Abstract Objective Dravet syndrome (DS) is an epileptic encephalopathy caused by haploinsufficiency of the SCN1A gene. SCN1A gene deficiency limits the firing rates of fast‐spiking inhibitory interneurons, which should reflect in abnormal aggregate
Externí odkaz:
https://doaj.org/article/652d6df1196b4915be59037e9a0f3955
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundVariants in a gene encoding sodium voltage-gated channel alpha subunit 1 (SCN1A) are known to cause a broad clinical spectrum of epilepsy and associated features, including Dravet syndrome (MIM 607208), non-Dravet developmental and epilepti
Externí odkaz:
https://doaj.org/article/000894123662404e9b3923e86949053d
Autor:
Steffan P. Jones, Nathanael O'Neill, Jenna C. Carpenter, Sharon Muggeo, Gaia Colasante, Dimitri M. Kullmann, Gabriele Lignani
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106688- (2024)
Dravet Syndrome (DS) is most often caused by heterozygous loss-of-function mutations in the voltage-gated sodium channel gene SCN1A (Nav1.1), resulting in severe epilepsy and neurodevelopmental impairment thought to be cause by reduced interneuron ex
Externí odkaz:
https://doaj.org/article/1ccb07d314b2457881d3f817618dbcda
Autor:
Elżbieta Stawicka, Anita Zielińska, Paulina Górka-Skoczylas, Karolina Kanabus, Renata Tataj, Tomasz Mazurczak, Dorota Hoffman-Zacharska
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4437-4451 (2024)
The aim of this study was to characterize the genotype and phenotype heterogeneity of patients with SCN1A gene mutations in the Polish population, fulfilling the criteria for the diagnosis of Dravet syndrome (DRVT). Particularly important was the ana
Externí odkaz:
https://doaj.org/article/e2751c48b93a43b99d713cf4353688a2
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-9 (2024)
Abstract Background Dravet syndrome is an infantile-onset developmental and epileptic encephalopathy (DEE) characterized by drug resistance, intractable seizures, and developmental comorbidities. This article focuses on manifestations in two Indonesi
Externí odkaz:
https://doaj.org/article/f1bd062a3a4a4fdaa1a8dc02da39aa8c
Autor:
Hinde El Mouhi, Meriame Abbassi, Meryem Jalte, Abdelhafid Natiq, Laila Bouguenouch, Sana Chaouki
Publikováno v:
Annals of Child Neurology, Vol 32, Iss 2, Pp 67-82 (2024)
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy, is a severe epileptic syndrome affecting children, with an incidence of 1/22,000 to 1/49,900 live births annually. Characterized by resistant and prolonged seizures, it o
Externí odkaz:
https://doaj.org/article/8bf80ad138e640d29c02084f77c3bf97
Autor:
Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)
Abstract About 50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as >100 bp from exon–intron junctions, contribute to disease by affecting the splicin
Externí odkaz:
https://doaj.org/article/3103487ddc324b14b1add1c9184bb83f