Keywords: GEFS +; Dravet syndrome; Epileptic encephalopathy; GEFS+; SCN1A mutation
مقالات ISI GEFS + (ترجمه نشده)
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In vivo assessment of neurological channelopathies: Application of peripheral nerve excitability studies
Keywords: GEFS +; Threshold electrotonus; Threshold tracking; Membrane excitability; Channelopathy; BFNE; Benign Familial Neonatal Epilepsy; CMAP; Compound muscle action potential; CNS; Central nervous system; EA; Episodic Ataxia; FHM; Familial Hemiplegic Migraine; GEFS+;
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood
Keywords: GEFS +; SCN1A; Panayiotopoulos syndrome; Consanguinity; GEFS+;
Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE)
Keywords: GEFS +; GEFS+; SCN1A; Mutation; Epilepsy; Gene;
Research PaperEarly-life febrile seizures worsen adult phenotypes in Scn1a mutants
Keywords: GEFS +; Febrile seizures; GEFS+; Â SCN1A; Epilepsy; Nav1.1;
Short communicationIs FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Keywords: GEFS +; FGF13; GEFS+; Sequencing;
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families
Keywords: GEFS +; SCN1A; Dravet syndrome; Severe myoclonic epilepsy of infancy; GEFS+; Febrile seizures;
Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures
Keywords: GEFS +; Voltage-gated sodium channels; Acute encephalopathy; Status epilepticus; AEIMSE; acute encephalopathy with inflammation-mediated status epilepticus; AESD; acute encephalopathy with biphasic seizures and late reduced diffusion; ANE; acute necrotizing encep
Differential gene expression profiles of two excitable rat cell lines after over-expression of WT- and C121W-β1 sodium channel subunits
Keywords: GEFS +; CDS; coding sequence; eBFP; enhanced Blue Fluorescent Protein; GEFS+; generalized epilepsy with febrile seizure; NaCh; Na+ channels; RIN; RNA integrity number; WT; wild type; voltage-gated sodium channel; epilepsy; mRNA; DNA-microarray; gene expression;
Vaccination and Occurrence of Seizures in SCN1A Mutation–Positive Patients: A Multicenter Italian Study
Keywords: GEFS +; vaccination; Dravet syndrome; GEFS+; SCN1A gene; seizure; cognition
Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance
Keywords: GEFS +; Scn8a; Nav1.6; Scn1a; Nav1.1; GEFS+; Dravet syndrome; Voltage-gated sodium channel; Lentivirus; Cre recombinase;
Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures
Keywords: GEFS +; SCN1A; CO2; Febrile seizure; Dravet syndrome; GEFS+;
Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit
Keywords: GEFS +; Sodium channel; Beta subunit: transfected cells; Epilepsy; Diagonal electrophoresis; GEFS+;
Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus
Keywords: GEFS +; Epilepsy; Genetics; GEFS+; Mutation;
Dravet Syndrome: Inroads into Understanding Epileptic Encephalopathies
Keywords: GEFS +; EEG; Electroencephalography; FS; Febrile seizure; GABA; Gamma aminobutyric acid; GEFS+; Generalized epilepsy with febrile seizures plus; SCN1A; Sodium channel subunit 1A; SMEB; Severe myoclonic epilepsy borderline; SMEI; Severe myoclonic epilepsy of infan
A novel GEFS+ locus on 12p13.33 in a large Roma family
Keywords: GEFS +; GEFS+; Epilepsy genetic loci; Roma/Gypsies; Heterogeneity; Founder population;
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A
Keywords: GEFS +; GEFS+; Epilepsy; Neuropsychiatric; SCN1A; Mutation
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Keywords: GEFS +; Dravet syndrome; SMEI; GEFS+; Febrile seizures; SCN1A; SCN1B; GABRG2
Neuroimaging and neurogenetics of epilepsy in humans
Keywords: GEFS +; epilepsy; genetics; neuroimaging; positron emission tomography; channelopathy; ADNFLE; autosomal dominant nocturnal frontal lobe epilepsy; CAE; childhood absence epilepsy; GEFS+; generalized epilepsy with febrile seizures plus; IGE; idiopathic generalized
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation
Keywords: GEFS +; Sodium channel; SCN1A; GEFS+; SMEI; Epilepsy; Mutation
A catalog of SCN1A variants
Keywords: GEFS +; SCN1A; Nav1.1; Na+ channel; Epilepsy; SMEI; GEFS+; Seizure
How do mutant Nav1.1 sodium channels cause epilepsy?
Keywords: GEFS +; Voltage-gated sodium channel; Epilepsy; Channelopathy; GEFS+; SMEI
Molecular neuroscienceComputational analysis of the R85C and R85H epilepsy mutations in Na+ channel β1 subunits
Keywords: GEFS +; genetic epilepsy; generalized epilepsy with febrile seizures plus; GEFS+; slow inactivation; Na+ channel models; neural excitability; EGFP; enhanced green fluorescent protein; GEFS+; generalized epilepsy with febrile seizures plus; Hepes; N-(2-hydroxyethy
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures
Keywords: GEFS +; Complex febrile seizures; GEFS+; SCN1A;
A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree
Keywords: GEFS +; GEFS+; Epilepsy; SCN1A; Mutations;
An epilepsy mutation in the β1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin
Keywords: GEFS +; GEFS+; Nav1.3; Heterologous expression; Patch clamp;