Results 41 to 50 of about 537,666 (200)

A heterozygous SCN1A (c.A5768G/+) mutant human induced pluripotent stem cell line (USTCi002-A) generated using TALEN-mediated precise gene editing

Stem Cell Research, 2020
Severe mycological epilepsy of infancy is a catastrophic disease with preferential dysfunction of interneurons, frequent episode rate, cognitive and sudden death.
Huifang Zhao, Shuai Li, Zuoxian Lin, Lang He, Weiyue Deng, Xiaobo Han, Feng Tang, Na Cheng, Peng Zhou, Rongqi Huang, Sihao Deng, Jufang Huang, Zhiyuan Li   +12 more
doaj   +1 more source

EVALUATION OF CLINICAL, DEMOGRAPHIC AND ELECTROENCEPHALOGRAPHY FINDINGS OF DRAVET SYNDROME PATIENTS

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Dravet syndrome (DS) is a severe myoclonic epilepsy affecting infants and is classified among epileptic syndromes. Generally, the first seizures begin with febrile diseases during infancy.
Mahmut Aslan, Serdal Güngör
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Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations [PDF]

Journal of Clinical Neurology, 2018
The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A).We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS,
Cho, Min Jung, Kwon, Soon Sung, Ko, Ara, Lee, Seung-Tae, Lee, Young Mock, Kim, Heung Dong, Chung, Hee Jung, Kim, Se Hee, Lee, Joon Soo, Kim, Dae-Sung, Kang, Hoon-Chul   +10 more
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SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes

Frontiers in Molecular Neuroscience, 2022
ObjectivesTo expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (SCN1A)-related epilepsy.MethodsWe retrospectively collected the clinical and genetic information of 22 epilepsy patients (10 males, 12 females; mean: 9.2 ± 3.9 years; 3.9–20.3 years) carrying 22 variants of SCN1A.
Rui Ma, Rui Ma, Yiran Duan, Yiran Duan, Liping Zhang, Xiaohong Qi, Lu Zhang, Lu Zhang, Sipei Pan, Sipei Pan, Lehong Gao, Lehong Gao, Chaodong Wang, Yuping Wang, Yuping Wang   +14 more
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SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype [PDF]

The Turkish Journal of Pediatrics, 2020
Background. Dravet syndrome (DS) is the most severe form of Generalized Epilepsy with Febrile Seizures plus (GEFS+) syndrome with a clear genetic component in 85% of the cases. It is characterized by fever-provoked seizure onset around six months of age and subsequent developmental deterioration later in life. Methods.
Peycheva, Valentina, Ivanova, Nevyana, Kamenarova, Kunka, Panova, Margarita, Pacheva, Iliana, Ivanov, Ivan, Bojidarova, Maria, Tacheva, Genoveva, Stamatov, Dimitar, Litvinenko, Ivan, Hristova, Dimitrina, Deneva, Daniela, Rodopska, Elena, Slavkova, Elena, Aleksandrova, Iliyana, Simeonov, Emil, Dimova, Petia, Bojinova, Veneta, Mitev, Vanyo, Jordanova, Albena, Kaneva, Radka   +20 more
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Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene

Stem Cell Research, 2020
Dravet syndrome is a neurological disorder characterized by treatment-resistant polymorphic seizures, primarily caused by loss-of-function in the SCN1A gene.
Huifang Zhao, Lang He, Shuai Li, Hualin Huang, Feng Tang, Xiaobo Han, Zuoxian Lin, Chao Tian, Rongqi Huang, Peng Zhou, Jufang Huang, Sihao Deng, Zhiyuan Li   +12 more
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Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. [PDF]

PLoS ONE, 2017
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A.
Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose   +10 more
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GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS CAUSED BY SCN1A GENE MUTATION: A FAMILY REPORT AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To summarize the clinical features and treatment of genetic epilepsy with febrile seizures plus (GEFS+) caused by SCN1A gene mutations, to improve the understanding of SCN1A gene mutations, and to provide a basis for the clinical diagnosis and ...
XU Kai, HUANG Shuo, ZHU Haifang, SUN Yanping
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Nodular heterotopia: a rare finding in patients with epilepsy and SCN1A mutation [PDF]

Arquivos de Neuro-Psiquiatria, 2021
A 25-year-old man had started febrile seizures from 6 months of age and developed important neurodevelopmental delay. At four years presented with status epilepticus and sequentially with refractory epilepsy. He presents with motor delay, behavior disorder and absent expressive language.
Matheus Rocha Pereira Klettenberg, Victor Alves Rodrigues, Diógenes Diego de Carvalho Bispo, Paulo Emidio Lobão Cunha, Lisiane Seguti Ferreira   +4 more
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Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?

Epilepsy and Behavior Case Reports, 2018
A 21-year-old male with an SCN1A mutation died of cerebral herniation 3 h after a seizure occurring during physical activity. Cases of fatal cerebral edema in patients with SCN1A mutations after fever and status epilepticus have been recently reported ...
Carina Büren, Marcel Alexander Kamp, Christopher Munoz-Bendix, Hans-Jakob Steiger, Joachim Windolf, Maxine Dibué-Adjei   +5 more
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