Results 101 to 110 of about 537,666 (200)

SCN1A-Related Epilepsies Across the Lifespan: Baseline Results from the UK National SCN1A-Horizons Natural History Cohort

Objective: SCN1A-related epilepsies, including Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+), are among the most common monogenic epilepsies.
SCN1A Horizons Network, ., Brunklaus, A.
core   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Electroclinical features of a family with SCN1A loss-of-function mutation associated with simple febrile seizures

, 2006
We report electro-clinical features of a large family composed by 35 members over four generations in which we recently identified a missense mutation (M145T) of SCN1A gene.
E. Schiavon, R. Canger, E. Wanke, A. Quattrone, A. Labate, M. Mantegazza, A. Gambardella, R. Rusconi, F. Annesi, M. Canevini, S. Franceschetti, G. Annesi, S. Carrideo, E. Colosimo, R. Chifari, R. Cassulini   +15 more
core   +2 more sources

Indications for Genetic Testing for Dravet Syndrome

Pediatric Neurology Briefs, 2011
Researchers at the Cincinnati Children’s Medical Center, OH investigated the predictive value of features of Dravet syndrome, as defined by the International League Against Epilepsy, as criteria for a positive SCN1A gene mutation in a cohort of ...
J Gordon Millichap
doaj   +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

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG   +8 more
doaj   +1 more source

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus

, 2008
Generalized epilepsy with febrile seizures plus (GEFS+; MIM#604233) is a familial epilepsy syndrome characterized by phenotypic and genetic heterogeneity.
Yuehua Zhang, Wu, Xiru, Yu Qi, Xiru Wu, Wu, Husheng, Liang, Jianmin, Ma, Xiuwei, Husheng Wu, Xiuwei Ma, Sun, Huihui, Jiong Qin, Jianmin Liang, Keming Xu, Liu, Xiaoyan, Qi, Yu, Huihui Sun, Xiaoyan Liu, Zhang, Yuehua, Xu, Keming, Qin, Jiong   +19 more
core   +1 more source

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

, 2013
International audiencePURPOSE: To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism.
Mumoli, Laura, Cestèle, Sandrine, Labate, Angelo, Mantegazza, Massimo, Gambardella, Antonio, Tarantino, Patrizia, Annesi, Grazia, Franceschetti, Silvana, Rusconi, Raffaella   +8 more
core   +1 more source

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis. [PDF]

Front Neurol, 2021
Ding J, Li X, Tian H, Wang L, Guo B, Wang Y, Li W, Wang F, Sun T.   +8 more
europepmc   +1 more source