|
rs118192236
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Those with the c.387+1G>T (splicing), (p.Arg581*), and p.(Val543Met) mutations presented with benign familial neonatal convulsions.
|
31199083 |
2019 |
|
rs794727134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Those with the c.387+1G>T (splicing), (p.Arg581*), and p.(Val543Met) mutations presented with benign familial neonatal convulsions.
|
31199083 |
2019 |
|
rs28939683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To demonstrate the functionality of the kick-in methodology, we generated two mouse lines with separate mutant versions of the voltage-dependent potassium channel Kv7.2 (Kcnq2): p.Tyr284Cys (Y284C) and p.Ala306Thr (A306T); both variations have been associated with benign familial neonatal epilepsy.
|
24586341 |
2014 |
|
rs74315390
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To demonstrate the functionality of the kick-in methodology, we generated two mouse lines with separate mutant versions of the voltage-dependent potassium channel Kv7.2 (Kcnq2): p.Tyr284Cys (Y284C) and p.Ala306Thr (A306T); both variations have been associated with benign familial neonatal epilepsy.
|
24586341 |
2014 |
|
rs118192219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on the biophysical and biochemical properties of V589X, T359K and P410fs12X mutant-KCNQ2 ion channels that were detected in three BFNC families.
|
19559753 |
2009 |
|
rs118192249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a lack of potassium current in W309R mutant KCNQ3 and KCNQ2 channels, which can explain the hyper-excitability of CNS in patients with BFNC.
|
19167866 |
2009 |
|
rs118192193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we identified a novel BFNC-causing mutation (E119G) in the S1-S2 region of KV7.2.
|
18006581 |
2008 |
|
rs118192199
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we describe the identification of a novel KCNQ2 heterozygous mutation (c587t) in a BFNC-affected family, leading to an alanine to valine substitution at amino acid position 196 located at the N-terminal end of the voltage-sensing S(4) domain.
|
17475800 |
2007 |
|
rs1215394494
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The consequences on KCNQ2 subunit function prompted by the A196V substitution, as well as by the A196V/L197P mutation previously described in another BFNC-affected family, were investigated by macroscopic and single-channel current measurements in CHO cells transiently transfected with wild-type and mutant subunits.
|
17475800 |
2007 |
|
rs28933401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate.
|
12953268 |
2003 |
|
rs768048563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate.
|
12953268 |
2003 |
|
rs28939684
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we show that KCNQ2/KCNQ3 channels carrying a novel BFNC-causing mutation leading to an arginine to tryptophan substitution in the voltage-sensing S4 domain of KCNQ2 subunits (R214W) displayed slower opening and faster closing kinetics and a decreased voltage sensitivity with no concomitant changes in maximal current or plasma membrane expression.
|
11784811 |
2002 |
|
rs74315391
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC.
|
11572947 |
2001 |