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rs587780586
|
|
|
0.010 |
GeneticVariation |
BEFREE |
•Systematic comparison of R850Q with three other SCN8A epilepsy mutations, T761I, R1617Q, R1872Q, identifies one common dysfunction in resurgent current, although these mutations alter distinct properties of the channel.
|
31715021 |
2020 |
|
rs786205866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies.
|
31477274 |
2020 |
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rs1047891
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the SNP rs1047891 was associated with VPA-induce HA among epilepsy patients.
|
31151073 |
2019 |
|
rs10818488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs3761847 SNP was associated with epilepsy under a dominant model, whereas rs10818488 was associated with CSF cellularity and parasite load under dominant and recessive models, respectively.
|
31570557 |
2019 |
|
rs121918363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent experimental studies demonstrated that SRPX2 is needed for vocalization and synapse formation in mice, and that both silencing SRPX2 and injecting (p.Asn327Ser) in mouse models results in alteration in neuronal migration in cerebral cortex and epilepsy.
|
30393191 |
2019 |
|
rs121918782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both p.Thr956Met and p.Tyr790Phe were previously described in unrelated patients with epilepsies within the GEFS+ spectrum.
|
30977726 |
2019 |
|
rs1373040226
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases.
|
31638258 |
2019 |
|
rs1373411103
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases.
|
31638258 |
2019 |
|
rs17611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy).
|
31570557 |
2019 |
|
rs199681253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the introduction of R800W in parallel with the epilepsy-linked mutation D434G (D434G/R800W) decreased the amplitude of AP-evoked BK currents compared with D434G alone.
|
31849601 |
2019 |
|
rs200345816
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The second individual had a homozygous missense mutation (c.1929C>A [p.His643Gln]) and presented with developmental delay and epilepsy in childhood.
|
30982608 |
2019 |
|
rs2235076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We did not detect significant association between rs9390754 and rs2235076 within GRIK2 gene and epilepsy risk.
|
30908586 |
2019 |
|
rs2274924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TRPM6 rs2274924 polymorphism may be associated with susceptibility to epilepsy following stroke, and the C allele may be associated with increased risk of post-stroke epilepsy.
|
30739590 |
2019 |
|
rs2304016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study identified no significant associations of allelic or genotypic SNPs with the susceptibility of epilepsy and medication response with an exception of rs2304016 and rs2499697 SNPs that were associated with the generalized type of epilepsy among Jordanian population.
|
31297029 |
2019 |
|
rs2499697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study identified no significant associations of allelic or genotypic SNPs with the susceptibility of epilepsy and medication response with an exception of rs2304016 and rs2499697 SNPs that were associated with the generalized type of epilepsy among Jordanian population.
|
31297029 |
2019 |
|
rs25681
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy).
|
31570557 |
2019 |
|
rs3213607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both rs4840200-T and rs3213607-A, and the interactions between rs4840200 and rs9390754 are related to the increased risk of epilepsy risk.
|
30908586 |
2019 |
|
rs368001837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 1 (NM_153033.4: c.[533C > T], NP_694578: p.[(Ala178Val)]) was a 17-year-old girl who presented with early-onset epilepsy resembling epilepsia partialis continua (responsive to intravenous corticosteroids and immunoglobulins), and later developed myoclonic seizures and atypical absences, photosensitivity to very low frequencies and progressive seizures-related neurocognitive and motor deterioration.
|
30500434 |
2019 |
|
rs3761847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs3761847 SNP was associated with epilepsy under a dominant model, whereas rs10818488 was associated with CSF cellularity and parasite load under dominant and recessive models, respectively.
|
31570557 |
2019 |
|
rs42938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of this study was to determine whether three common genetic polymorphisms [apolipoprotein (APOE) ε4 (rs42938 and rs7412), brain derived neurotrophic factor (BDNF) Met (rs6265), and catechol-O-methyltransferase (COMT) Val (rs4680)] are associated with increased psychiatric symptomatology in individuals with pharmacoresistant epilepsy.
|
30909076 |
2019 |
|
rs4840200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both rs4840200-T and rs3213607-A, and the interactions between rs4840200 and rs9390754 are related to the increased risk of epilepsy risk.
|
30908586 |
2019 |
|
rs572427454
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To validate our findings further, we obtained an in-depth comparison of two novel mutations [GABRB3 (N328D) and GABRB3 (E357K)] associated with epilepsy with different severities of epilepsy phenotype.
|
31435640 |
2019 |
|
rs587777365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient carried previously reported p.P83S variant with autism spectrum disorder (ASD) phenotype that has not yet been described related to GABRG2 disorders and a more severe epilepsy phenotype than reported earlier.
|
31004928 |
2019 |
|
rs7412
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of this study was to determine whether three common genetic polymorphisms [apolipoprotein (APOE) ε4 (rs42938 and rs7412), brain derived neurotrophic factor (BDNF) Met (rs6265), and catechol-O-methyltransferase (COMT) Val (rs4680)] are associated with increased psychiatric symptomatology in individuals with pharmacoresistant epilepsy.
|
30909076 |
2019 |
|
rs763000109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that the MnSOD Ala16Val SNP might have an important role in epilepsy, mainly in patients with generalized seizures and particularly with VV genotype.
|
31212050 |
2019 |