Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.
|
31786370 |
2020 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
|
31765958 |
2020 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to explore the effect of SCN1A and SCN2A gene polymorphisms on VPA response in the treatment of epilepsy among Chinese patients.
|
30693367 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fifty-one patients had an epilepsy panel, two of which were positive (likely pathogenic variant in SCN1A, pathogenic variant in GABRG2).
|
30660939 |
2019 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Outcomes and comorbidities of SCN1A-related seizure disorders.
|
30527252 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a precise genetic etiology can direct physicians to (i) prescribe treatments that correct specific metabolic defects (e.g., the ketogenic diet for GLUT1 deficiency, or pyridoxine for pyridoxine-dependent epilepsies); (ii) avoid antiepileptic drugs (AEDs) that can aggravate the pathogenic defect (e.g., sodium channel blocking drugs in SCN1A-related Dravet syndrome), or (iii) select AEDs that counteract the functional disturbance caused by the gene mutation (e.g., sodium channel blockers for epilepsies due to gain-of-function SCN8A mutations).
|
30870728 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities.
|
31144463 |
2019 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Modules seeded with genes strongly associated with epilepsy (e.g., SCN1A, GABRA1, and KCNB1) are significantly associated with synaptic transmission, long-term potentiation, and calcium signaling pathways.
|
31653223 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SCN1A missense variants related to epilepsy were retrieved from mutation databases, and benign missense variants were collected from ExAC database.
|
31686106 |
2019 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies.
|
30659983 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to explore the genotype and phenotype spectrum of SCN1A gene related epilepsy.
|
31009440 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Targeted next-generation sequencing (NGS) was performed for 120 patients with unexplained epilepsy, including 71 patients with early-onset epileptic encephalopathies, and 16 patients with Dravet syndrome (including three patients with a Dravet-like phenotype) but without SCN1A pathogenic variants.
|
30776697 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also examined seizure susceptibility in Cnr2 mutants harboring the human SCN1A R1648H (RH) epilepsy mutation and performed Electroencephalography (EEG) analysis to determine whether the loss of CB2Rs would increase spontaneous seizure frequency in Scn1a RH mutant mice.
|
31758544 |
2019 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
PCDH19 has become the second most relevant gene in epilepsy after SCN1A.Seizures often provoked by fever.
|
31714027 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS).
|
31782251 |
2019 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis.
|
30413604 |
2018 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, targeted-exome sequencing will make it possible to detect the interactions of epilepsy-related genes and reveal their modification on the severity of SCN1A mutation-related Dravet syndrome.
|
30558019 |
2018 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The penetrance of epilepsy within the families was highest for patients carrying mutation in the CACNA1A gene (60%), and lower in those having SCN1A (33.3%) and ATP1A2 (30.9%) mutations.
|
28058944 |
2018 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We previously reported predominant Nav1.1 expression in parvalbumin-expressing (PV+) inhibitory neurons in juvenile mouse brain and observed epileptic seizures in mice with selective deletion of Scn1a in PV+ cells mediated by PV-Cre transgene expression (Scn1a<sup>fl/+</sup>/PV-Cre-TG).
|
29337050 |
2018 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
|
30526861 |
2018 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A.
|
29329111 |
2018 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
This metabolic pattern may be characteristic of epilepsy associated with SCN1A variants and may serve as a biomarker to monitor disease progression and response to treatments.
|
30182801 |
2018 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Indeed, many genes, including genes encoding drug transporters (ABCB1), drug targets (SCN1A), drug-metabolizing enzymes (CYP2C9, CYP2C19), and human leucocyte antigen (HLA) proteins, may regulate the mechanisms of drug resistance in epilepsy.
|
29804481 |
2018 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our results suggest that SCN1A rs3812718 polymorphism is associated with the risk of epilepsy.
|
29605548 |
2018 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we report two heterozygous SCN9A mutations with no SCN1A mutations, which are associated with variable epilepsy phenotypes and explored the possibility of SCN9A contributing to a multifactorial etiology for epilepsy.
|
29500686 |
2018 |