Results 161 to 170 of about 8,423 (186)

Genetic Polymorphisms in <i>SCN1A</i> Gene (rs6432860) and Pharmacoresistance to Antiepileptic Drugs Among Jordanian Patients with Epilepsy. [PDF]

Pharmaceuticals (Basel)
Al-Sadir H, Al-Farhood A, Yousef AM, Abduljabbar R, Abdullah S, Abuhaliema A, Kasabri V.   +6 more
europepmc   +1 more source

Engineering a human-based translational activator for targeted protein expression restoration. [PDF]

Nucleic Acids Res
Sinnott RW, Solanki A, Govind AP, Green WN, Dickinson BC.   +4 more
europepmc   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player? [PDF]

J Neurosci Res
Lange J, Zhao E, O'Connell E, Gillham O, McTague A.   +4 more
europepmc   +1 more source

Genotype mutations and phenotypes of 30 cases with epilepsy related to fever sensitivity in children. [PDF]

Front Neurol
Wang Y, Zhang L, Ma J, Jing M, Hua Y, Liu Y, Fan X.   +6 more
europepmc   +1 more source

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability. [PDF]

Epilepsia Open
Dell'Isola GB, Muda A, Giordano L, Guerrini R, Boncristiano A, Pietrafusa N, Polselli M, Bisulli F, Ragona F, Riva A, Striano P, Battaglia DI, Vigevano F.   +12 more
europepmc   +1 more source

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy. [PDF]

Neurol Genet
Wu F, Ji X, Cheng P, Zhao S, Feng S, Liu W, Chen J, Zhang X, Wang H, Chen Q.   +9 more
europepmc   +1 more source

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Epilepsia, 2009
Link to a related website: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1528-1167.2009.02013.x, Open Access via UnpaywallObjective:  We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs ...
Rima Nabbout, Davide Mei, Jacinta M McMahon   +2 more
exaly   +2 more sources