Keywords: Dravet syndrome; SCN1A; myoclonic absence seizures; epileptic encephalopathy; absence seizures;
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Keywords: Dravet syndrome; Status epilepticus; SCN1A; NaV1.1; GABAergic neurons;
Keywords: ASD; autism spectrum disorders; BTBR; BTBR T+Itpr3tf/J mouse strain; cKO; conditional knockout; CNS; central nervous system; CNTNAP2; contactin-associated protein-like 2; DREADD; designer receptors exclusively activated by designer drugs; DSM-5; Diagnosti
Keywords: 2q24.3 microduplication; Epileptic spasms; Array comparative genomic hybridization array (aCGH); SCN1A; SCN2A; SCN3A
Keywords: Dravet syndrome; SMEI; SCN1A; P-glycoprotein; Verapamil; Epilepsy; Multidrug transporters; Blood–brain barrier; Drug-resistance
Keywords: Nav channel plasmid preparationSodium channel; Nav channel; Mutation; Plasmid; DNA; Nav1.1; SCN1A; Nav1.6; SCN8A; Stbl2; Channelopathy
Keywords: PCDH19-related epilepsy; Dravet Syndrome; SCN1A; Genetic epilepsy; Epilepsy classification
Keywords: Dravet syndrome; Outcome; Seizure frequency; Seizure duration; Status epilepticus; Stiripentol; Combined therapy; SCN1A
Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome
Keywords: Dravet syndrome; Refractory epilepsy; Ketogenic diet; SCN1A;
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome
Keywords: FDG-PET; SCN1A; Dravet syndrome; Epileptic encephalopathy glucose metabolism;
Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients
Keywords: Drug-resistance; Epilepsy; Intronic polymorphisms; SCN1A;
SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis
Keywords: Epilepsy; SCN1A; rs3812718; Meta-analysis;
Association of CACNA1C with bipolar disorder among the Pakistani population
Keywords: BD; bipolar disorder; SNPs; single nucleotide polymorphisms; ORs; odds ratios; GWAS; genome-wide association studies; NHGRI; National Human Genome Research Institute; ANK3; Ankyrin G; CACNA1C; L-type voltage-dependent calcium channel; PCR; polymerase chai
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells
Keywords: Dravet syndrome; Epilepsy; Autism spectrum disorder; Hyperactivity; Scn1a; Conditional knockout mouse model; Parvalbumin; Somatostatin; Interneuron;
The HLA-B*15:02 polymorphism and Tegretol®-induced serious cutaneous reactions in epilepsy: An updated systematic review and meta-analysis
Keywords: ADRs; adverse drug reactions; cADRs; cutaneous adverse drug reactions; CBZ; carbamazepine; CI; confidence interval; DNA; deoxyribonucleic acid; DRESS; drug reaction with eosinophilia and systemic symptoms; GABRA1; gamma-aminobutyric acid type A receptor a
Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures
Keywords: VPA; sodium valproate; FABP2; fatty acid binding protein 2; ABCB1; ATP binding cassette subfamily B member 1; ABCC2; ATP binding cassette subfamily C member 2; GABA; gamma-aminobutyric acid; ABAT; 4-aminobutyrate aminotransferase; GABR; GABA receptor; SCN
Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures
Keywords: SCN1A; SCN2A; Epilepsy; Genotype; Phenotype;
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients
Keywords: Dravet syndrome; SCN1A; Rare disease; Vagus nerve stimulation; VNS; Neuromodulation; Refractory epilepsy;
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns
Keywords: SCN1A; Patient-centered outcomes; Family impact; Dravet Syndrome Foundation; Survey; DS; Dravet syndrome; DSF; Dravet Syndrome Foundation; AED; antiepileptic drug; HRQOL; health-related quality of life; ASD; autism spectrum disorder; SUDEP; sudden unexpec
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood
Keywords: 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+; SCN1A; Mutation; Epilepsy; Gene;
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis
Keywords: Photoparoxysmal EEG response; PPR; SCN1A; Pattern stimulation; Self-induction; Prevalence;
MDH2 is an RNA binding protein involved in downregulation of sodium channel Scn1a expression under seizure condition
Keywords: MDH2; Scn1a; Seizure; Posttranscriptional regulation; RNA binding protein;
Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A
Keywords: Dravet syndrome; SCN1A; Mosaicism; Inheritance; Whole exome sequencing;
ReviewMortality in Dravet syndrome: A review
Keywords: SCN1A; Dravet; Sudden unexpected death in epilepsy; Status epilepticus;
The potential implication of SCN1A and CYP3A5 genetic variants on antiepileptic drug resistance among Egyptian epileptic children
Keywords: Epilepsy; Drug-resistant; Genetic polymorphisms; CYP3A5*3; SCN1A;
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome
Keywords: Dravet syndrome; SCN1A; Long non-coding RNA; Natural antisense transcript; AntagoNAT; Oligonucleotide-based compound
Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome
Keywords: Excitatory GABA; Epilepsy; Dravet; Fast-onset; Seizure; Depolarizing GABA; Interneuron; Glutamate; SCN1A; EEG; Stiripentol; Shunting inhibition;
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families
Keywords: SCN1A; Dravet syndrome; Severe myoclonic epilepsy of infancy; GEFS+; Febrile seizures;
Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?
Keywords: DS; Dravet syndrome; Severe myoclonic epilepsy of infancy; SMEI; SCN1A; Provocation; Physical exercise; Triggers;
Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
Keywords: Migrating partial seizures of infancy; Dravet syndrome; SCN1A; 2q24.3 deletion;
RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia
Keywords: Epilepsy; RORA; RORB; SCN1A; Polymorphism; Susceptibility;
Ictal ontogeny in Dravet syndrome
Keywords: SCN1A; Channelopathy; Epilepsy; Postictal generalized EEG suppression (PGES); Sudden unexpected death in epilepsy (SUDEP)
Electroencephalographic features of patients with SCN1A-positive Dravet syndrome
Keywords: Dravet syndrome; EEG; SCN1A
Short CommunicationLack of pathogenic mutations in six patients with MMPSI
Keywords: MMPSI; Targeted re-sequencing; KCNT1; PLCB1; SCN1A; TBC1D24;
Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome
Keywords: Dravet syndrome; Cognitive evaluation; Epilepsy; SCN1A;
When is a child with status epilepticus likely to have Dravet syndrome?
Keywords: Status epilepticus; SCN1A; Children;
Brain morphometry of Dravet Syndrome
Keywords: Dravet Syndrome; Morphometry; VBM; Cortical gyrification; SCN1A
Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance
Keywords: 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: SCN1A; CO2; Febrile seizure; Dravet syndrome; GEFS+;
Molecular aspects of Dravet syndrome patients in Taiwan
Keywords: Dravet syndrome; SCN1A; Gene mutation; Copy number variation;
Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility
Keywords: Epilepsy; SCN1A; Ion channels; Interneurons; Pyramidal neurons;
Focal Scn1a knockdown induces cognitive impairment without seizures
Keywords: Scn1a; Nav1.1; Sodium channel; Dravet syndrome; Alzheimer's disease; Oscillations; Cognition; Epilepsy; Medial septum;
FGF14 localization and organization of the axon initial segment
Keywords: AIS; axon initial segment; FGF14; fibroblast growth factor 14; iFGF; intracellular fibroblast growth factor; Nav; voltage gated sodium channel; Purkinje neuron; Axon initial segment; AIS; iFGF; FGF14; Voltage-gated sodium channel; Scn1a; Scn8a; Ankyrin G;
Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment
Keywords: SCN1A; Lowered sociability; Spatial learning deficit; Parvalbumin; Interneuron;
Low incidence of SCN1A genetic mutation in patients with hemiconvulsion–hemiplegia–epilepsy syndrome
Keywords: HHE syndrome; SCN1A; Dravet syndrome
Molecular biology of epilepsy genes
Keywords: Epilepsy; Genetics; SCN1A; ARX; 15q13.3; 15q12; 16p11.3; Multifactorial; GWAS; Chromosomes
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome
Keywords: CACNA1A; Epilepsy; SCN1A; Electrophysiology; Molecular genetics
Diagnosis and long-term course of Dravet syndrome
Keywords: Dravet syndrome; Phenotype; Prognosis; Genetics; SCN1A; Long-term course
Dravet syndrome: Patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects
Keywords: Dravet syndrome; SCN1A; Mitochondrial disease; Electron transport chain; Autism;