Results 71 to 80 of about 8,423 (186)

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [PDF]

PLoS ONE, 2012
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the
Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong   +3 more
doaj   +1 more source

Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition

Epilepsia, EarlyView.
Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga, Mercedes Pérez‐Fernández, Yuniesky Andrade‐Talavera, Benito Domínguez‐Velasco, Antonio Rodríguez‐Moreno, Manuel Álvarez‐Dolado   +5 more
wiley   +1 more source

SCN1A mutational analysis in Korean patients with Dravet syndrome [PDF]

, 2011
ObjectiveThe aim of this study was to characterize the SCN1A mutation spectrum in Korean patients with Dravet syndrome.MethodsTwenty-nine patients diagnosed with Dravet syndrome at the Seoul National University Children's Hospital were included in the ...
Hwang, Yong Seung, Kang, Seong-Ho, Ki Joong Kim, Hee Hwang, Seong-Ho Kang, Ji-Eun Choi, Choi, Ji-Eun, Byung Chan Lim, Chang-Seok Ki, Jong Hee Chae, Kim, Ki Joong, Yong Seung Hwang, Lim, Byung Chan, Ki, Chang-Seok, Chae, Jong Hee, Hwang, Hee   +15 more
core   +1 more source

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source

Cryptogenic Epileptic Syndromes Related to SCN1A Twelve Novel Mutations Identified [PDF]

, 2008
Background: Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy.
C. Zucca, M. Lodi, P. Bonanni, C. Panzeri, S. Cardinali, N. Bresolin, F. Redaelli, R. Borgatti, P. Veggiotti, R. Romaniello, N. Zanotta, G. De Polo, M. T. Bassi, A. Romeo, C. Baschirotto, L. Martorell, R. Epifanio, G. Airoldi   +17 more
core   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

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

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   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

The Glucagon-Like Peptide-1 Analogue Liraglutide Reduces Seizures Susceptibility, Cognition Dysfunction and Neuronal Apoptosis in a Mouse Model of Dravet Syndrome

Frontiers in Pharmacology, 2020
Dravet syndrome (DS) is a refractory epilepsy typically caused by heterozygous mutations of the Scn1a gene, which encodes the voltage-gated sodium channel Nav1.1.
Shenhai Liu, Shenhai Liu, Zhe Jin, Zhe Jin, Yiling Zhang, ShiKuo Rong, ShiKuo Rong, Wenxin He, Wenxin He, Kuisheng Sun, Kuisheng Sun, Din Wan, Din Wan, Junming Huo, Junming Huo, Lifei Xiao, Lifei Xiao, Xinxiao Li, Xinxiao Li, Na Ding, Na Ding, Feng Wang, Feng Wang, Tao Sun, Tao Sun   +24 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source