Results 191 to 200 of about 537,666 (200)

A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy

Journal of Clinical Neuroscience, 2017
Angela C Gauthier, Louis N Manganas
exaly  

“Relationship between SCN1A mutations and SMEI”

2006
S Carrideo, F Annesi, E Mannarino, G Incorpora, A Polizzi, EV De Marco, FE Rocca, IC Cirò Candiano, D Civitelli, P Tarantino, G Provenzano, M Salsone, A Gamardella, G Annesi   +13 more
openaire   +2 more sources

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Frontiers in Neurology, 2018
Miaomiao Yu, Na Shao
exaly  

The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

Human Mutation, 2015
Wei-Ping Liao, Xiaorong Liu, Yue-Sheng Long   +2 more
exaly  

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

Lancet, The, 2005
Michel Ferrari, Martin Dichgans, Michael Pusch   +2 more
exaly  

On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation

Brain and Development, 2012
Shinichi Hirose, Norimichi Higurashi, Atsushi Ishii   +2 more
exaly  

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

Epilepsy and Behavior, 2015
Davide Mei, Renzo Guerrini, Claudia Passamonti   +2 more
exaly  

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

Brain, 2012
exaly  

A Point Mutation in SCN1A 5′ Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug

Molecular Neurobiology, 2016
Wei-Ping Liao, Na He, Cui-Xia Fan
exaly  

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L

Cephalalgia, 2018
Tobias Freilinger
exaly