Febrile Convulsions
|
0.700 |
Biomarker
|
disease |
BEFREE |
Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure.
|
31720899 |
2020 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures.
|
31755124 |
2020 |
Febrile Convulsions
|
0.700 |
Biomarker
|
disease |
BEFREE |
A cohort of 164 Dutch participants with SCN1A-related seizures was evaluated, consisting of 116 patients with Dravet syndrome and 48 patients with either GEFS+, febrile seizures plus (FS+), or FS.
|
30527252 |
2019 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations are associated with a spectrum of seizure-related disorders, ranging from a relatively mild form of febrile seizures to a more severe epileptic encephalopathy known as Dravet syndrome.
|
31009440 |
2019 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases.
|
29460957 |
2018 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with SCN1A mutations often experience prolonged early-life febrile seizures (FSs), raising the possibility that these events may influence epileptogenesis and lead to more severe adult phenotypes.
|
28373025 |
2017 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the case of an 8-year-old boy with a novel SCN1A mutation who developed febrile seizures at 10months of age which eventually advanced to frequent afebrile tonic-clonic seizures.
|
28262406 |
2017 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the 5' upstream region of SCN1A in 166 patients with epilepsy and febrile seizures who were negative for point mutations in the coding regions or genomic rearrangements.
|
26969601 |
2017 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes.
|
28505490 |
2017 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy.
|
27768696 |
2016 |
Febrile Convulsions
|
0.700 |
Biomarker
|
disease |
BEFREE |
The fact that we identify mouse FS-QTL2a with high FEB3 homology is strong support for the validity of the eFS mouse model to study genetics of human FS.
|
27690330 |
2016 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN1A, the gene encoding voltage-gated sodium channel NaV1.1, cause a spectrum of epilepsy disorders that range from genetic epilepsy with febrile seizures plus to catastrophic disorders such as Dravet syndrome.
|
26843603 |
2016 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
|
25795284 |
2015 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
|
26311622 |
2015 |
Febrile Convulsions
|
0.700 |
Biomarker
|
disease |
CTD_human |
Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.
|
25362483 |
2014 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a multisystem analysis of an SCN1A mouse model carrying the NaV1.1-R1648H mutation, which causes febrile seizures and epilepsy in humans.
|
25378155 |
2014 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Results from this relatively small series provide evidence that vaccinations do not significantly affect clinical and cognitive evolution of Dravet syndrome and generalized epilepsy with febrile seizure plus patients even if they carry SCN1A mutations.
|
24405698 |
2014 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).
|
25344690 |
2014 |
Febrile Convulsions
|
0.700 |
Biomarker
|
disease |
CTD_human |
Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).
|
25344690 |
2014 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations were found in 12 of the 71 patients (16.9%; ten with DS, and two with seizures in a Generalized Epilepsy with Febrile Seizures+(GEFS+) context).
|
24679980 |
2014 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.
|
24076350 |
2014 |
Febrile Convulsions
|
0.700 |
Biomarker
|
disease |
BEFREE |
SCN1A gene analysis is not commonly performed in subjects with generalised seizures without FS.
|
24842605 |
2014 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The patient with SCN1A mutation had the earliest onset of febrile convulsion and hemiparesis.
|
23916143 |
2013 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
|
24014518 |
2013 |
Febrile Convulsions
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel.
|
23773995 |
2013 |