|
rs137853333
|
|
|
0.020 |
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 |
|
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 |
|
rs121918622
|
|
|
0.030 |
GeneticVariation |
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 |
|
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 |
|
rs17183814
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For SCN2A polymorphism c.56 G > A rs17183814, one hundred patients with epilepsy who were receiving lamotrigine in monotherapy and seventy-one age and sex matched healthy controls were genotyped using TaqMan assay.
|
31707316 |
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 |
|
rs945564833
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs992670
|
|
|
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 |
|
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 |
|
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 |
|
rs763256222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novelSCN9A heterozygous missense mutations (I775M, R429C and A442T) were noted, which are associated with febrile seizures (FS), febrile seizures plus (FS<sup>+</sup>) and genetic epilepsy with febrile seizures plus (GEFS<sup>+</sup>), respectively.
|
31394368 |
2019 |
|
rs770771659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novelSCN9A heterozygous missense mutations (I775M, R429C and A442T) were noted, which are associated with febrile seizures (FS), febrile seizures plus (FS<sup>+</sup>) and genetic epilepsy with febrile seizures plus (GEFS<sup>+</sup>), respectively.
|
31394368 |
2019 |
|
rs886039903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently, only one recurrent gain-of-function variant [NM_021032.4:c.341G>A:p.(Arg114His)] in FGF12 was found in a total of 10 patients with severe early-onset epilepsy.
|
31311986 |
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 |
|
rs886039903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype.
|
31292943 |
2019 |
|
rs4880
|
|
|
0.030 |
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 |
|
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 |
|
rs1047891
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the SNP rs1047891 was associated with VPA-induce HA among epilepsy patients.
|
31151073 |
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 |