|
rs730882229
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs730882242
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs759317757
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs796053216
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs80359826
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886039798
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype of CYP2C9 (Arg144/Cys, Ile359/Leu) and CYP2C19(*1, *2 or *3) in 134 Japanese adult patients with epilepsy treated with PHT were determined, and their serum concentrations of 5-(4-hydroxyphenyl)-5-phenylhydantoin (p-HPPH) enantiomers, being major metabolites of PHT, were measured.
|
9860067 |
1998 |
|
rs1217691063
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To determine whether a common methylenetetrahydrofolate reductase (MTHFR) variant is related to elevated homocysteine concentrations in epileptic patients receiving anticonvulsants, we investigated the plasma total homocysteine (tHcy) level, folate level, and MTHFR 677 C --> T mutation using a polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis with HinfI digestion in 103 patients with epilepsy and 103 normal controls.
|
10459572 |
1999 |
|
rs63750231
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This investigation shows for the first time CA1 neuronal depopulation in a subpopulation of patients (five of eight) bearing the PS1[E280A] mutation with epileptic seizures, indicating a relation between hippocampal neuronal loss and epileptic seizures in FAD patients.
|
15230697 |
2004 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Whether the C3435T polymorphism can act as a marker for the natural history of treated epilepsy remains to be determined.
|
15857428 |
2005 |
|
rs193929353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the I296L mutation also results in developmental delay, muscle weakness and epilepsy.
|
15864298 |
2005 |
|
rs281865071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.
|
15964197 |
2005 |
|
rs1217691063
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Our study suggests that both C677T and A1298C MTHFR polymorphisms should be examined when assessing genetic risk factors of hyperhomocysteinemia in epilepsy.
|
15970629 |
2004 |
|
rs397507444
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our study suggests that both C677T and A1298C MTHFR polymorphisms should be examined when assessing genetic risk factors of hyperhomocysteinemia in epilepsy.
|
15970629 |
2004 |
|
rs121918628
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of candidate genes in this region revealed a heterozygous missense mutation (Gln1489Lys) in the neuronal voltage-gated sodium channel gene SCN1A, mutations of which have been associated with epilepsy.
|
16054936 |
2005 |
|
rs1285524167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).
|
16087682 |
2005 |
|
rs80356616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).
|
16087682 |
2005 |
|
rs80356617
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).
|
16087682 |
2005 |
|
rs80356624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).
|
16087682 |
2005 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One hundred and eight patients with drug-responsive epilepsy, 63 patients with drug-resistant epilepsy, and 219 control migraine subjects were studied, but the analysis for C3435T allele showed no significant association between the CC genotype and the multidrug-resistant epilepsy.
|
16542858 |
2006 |
|
rs28934904
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The study group differed significantly from the control group with regard to their disease severity (P < 0.001); feeding difficulty scores (P < 0.001); health scores (P < 0.001); epilepsy (P < 0.001); head circumference (P < 0.004); age at onset of the regression period (P < 0.001) (six in the study group did not regress) and mutation frequency (C-terminal deletions P = 0.014, R133C P < 0.006).
|
16629931 |
2006 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ABCB1 T-129C, C1236T, G2677T/A and C3435T polymorphisms were genotyped in 210 Japanese epileptics who had been prescribed AEDs, including CBZ, for longer than 2 years.
|
16753003 |
2006 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ABCB1 3435C-->T single-nucleotide polymorphism (SNP) or a three-SNP haplotype containing 3435C-->T has been implicated in multidrug resistance in epilepsy in three retrospective case-control studies, but a further three have failed to replicate the association.
|
16857572 |
2006 |
|
rs4906902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Seven hundred and eighty unrelated German IGE patients (250 CAE, 123 juvenile absence epilepsy, 303 juvenile myoclonic epilepsy (JME), 104 epilepsy with generalized tonic-clonic seizures on awakening) and 559 healthy population controls were genotyped for the single nucleotide polymorphism (SNP) rs4906902.
|
17215107 |
2007 |
|
rs193929358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel.
|
17259376 |
2007 |