Results 101 to 110 of about 8,423 (186)

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome

Frontiers in Neurology, 2019
Objective: We aimed to improve the classification of SCN1A missense variants in patients with Dravet syndrome (DS) by combining and modifying the current variants classification criteria to minimize inconclusive test results.Methods: We established a ...
Marina C. Gonsales, Maria Augusta Montenegro, Paula Preto, Marilisa M. Guerreiro, Ana Carolina Coan, Monica Paiva Quast, Benilton S. Carvalho, Iscia Lopes-Cendes   +7 more
doaj   +1 more source

SCN1A Variants in Patients with Dravet Syndrome

, 2017
Purpose: The aim of this study is to examine the SCN1A variants in Korean patients with Dravet syndrome. Methods: We conducted a retrospective study of clinically confirmed thirty-nine patients with Dravet syndrome who visit our hospital from January ...
김세희, 이영목, 이준수, 김흥동, 강훈철   +4 more
core  

Effectiveness and safety of cannabidiol in adult patients with epilepsy: A multicenter, retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Cannabidiol (CBD) has demonstrated promising effectiveness and tolerability as adjunctive treatment in patients with severe childhood epilepsies. This study investigated the effectiveness and tolerability of CBD in adults with a history of Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), or tuberous sclerosis complex (TSC ...
Sara Sánchez‐Gamino, María Isabel Chamorro Muñoz, Pedro J. Serrano‐Castro, Pablo Hernández‐Vitorique, Lucía Rodríguez Jiménez, Yolanda López Moreno, Pablo Cabezudo‐García, Guillermina García Martín   +7 more
wiley   +1 more source

Analysis of pathogenic genes and phenotypic characteristics of 81 children with epilepsy and movement disorders

徐州医科大学学报
Objective To summarize the pathogenic gene mutation spectrum and related phenotypic characteristics in children with epilepsy accompanied by movement disorders (E-MD). Methods Retrospective analysis was conducted on 81 children with genetically confirmed
TAO Yichen, WANG Chu, XU Xiaoqing, DAI Yuanyuan, LI Rui, FAN Hongbin   +5 more
doaj   +1 more source

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

Neurobiology of Disease, 2011
Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (severe myoclonic epilepsy of infancy).
Nicole A. Hawkins, Melinda S. Martin, Wayne N. Frankel, Jennifer A. Kearney, Andrew Escayg   +4 more
doaj   +1 more source

Checking the expression and localization of split-SCN1A constructs in HEK293 cells

, 2018
Examine the functionality (expression, ability to reconstitute, and localization of re-assembled SCN1A) of split-SCN1A-GFP1-10 and split-SCN1A-GFP11 ...
Aw, Wen Yih (5906528), Morris, David, Aw, Wen Yih, Morris, David (5906531)   +3 more
core   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

JCI Insight
Dravet syndrome is a developmental and epileptic encephalopathy associated with pathogenic variants in SCN1A. Most disease-causing variants are located within coding regions, but recent work has shed light on the role of noncoding variants associated ...
Sheng Tang, Hannah Stamberger, Jeffrey D. Calhoun, Sarah Weckhuysen, Gemma L. Carvill   +4 more
doaj   +1 more source

Silence around SUDEP and its impact on caregivers of individuals with developmental and epileptic encephalopathies: An international survey

Epilepsia Open, EarlyView.
Abstract Objective Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of epilepsy‐related mortality, particularly in individuals with Developmental and Epileptic Encephalopathies (DEEs). The goal of this work is to assess SUDEP‐related knowledge, information practices, emotional and psychological impact, and the use of preventive measures
José Ángel Aibar, Ana Cantó Martínez, David Alarcón Alarcón, Eulalia Turón‐Viñas, Rima Nabbout, Isabella Brambilla, Franck Kalume, Danielle Andrade, Simona Giorgi   +8 more
wiley   +1 more source