|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutant KCNQ2 cDNAs were co-expressed with WT-KCNQ2 and KCNQ3 cDNAs in HEK293 cells to mimic heterozygous expression of the KCNQ2 mutations in BFNC patients.
|
19559753 |
2009 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these results suggest that, in the family investigated, the KCNQ2 mutation is responsible for the BFNC phenotype, possibly because of haplo-insufficiency, whereas the KCNQ3 variant is functionally silent, a result compatible with its lack of segregation with the BFNC phenotype.
|
16235065 |
2005 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC.
|
11175290 |
2000 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
|
14534157 |
2003 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thus, the discovery of KCNQ2 mutations in benign familial neonatal convulsions, SCN1A mutations in severe myoclonic epilepsy of infancy and in generalized epilepsy with febrile seizures plus, and CHRA4 and CHRB2 mutations in autosomal-dominant nocturnal frontal lobe epilepsy, has led to the establishment of epilepsy as a disorder of ion channel function and, furthermore, has led to the introduction of genetic tests that are available clinically to aid in diagnosis and treatment.
|
17181426 |
2006 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A KCNQ2 mutant associated with BFNC that has a truncated cytoplasmic carboxyl terminus did not reach the surface and failed to stimulate KCNQ3 surface expression.
|
10788442 |
2000 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.
|
16260777 |
2006 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
|
10323247 |
1999 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
By linkage analysis and mutation analysis of KCNQ2 gene, we found a novel frameshift mutation of KCNQ2 gene, 1931delG, in a large Chinese family with benign familial neonatal convulsions.
|
15178210 |
2004 |
|
Familial benign neonatal epilepsy
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Human mutations of KCNQ2 and KCNQ3 potassium channel genes result in reduction or loss of channel activity and cause benign familial neonatal convulsions (BFNCs).
|
17435769 |
2007 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To better understand such dynamic neuroprotective plasticity within the developing brain, we introduced missense mutations that underlie human BFNC into the orthologous murine Kcnq2 (Kv7.2) and Kcnq3 (Kv7.3) genes.
|
18483067 |
2008 |
|
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q (refs 2-5), the EPM1 gene for Unverricht-Lundborg disease maps to 21q (ref.
|
7647781 |
1995 |
|
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The data here presented demonstrate that the BFNC gene is not responsible for BIFC.
|
8154876 |
1994 |
|
Familial benign neonatal epilepsy
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
In addition to benign familial neonatal epilepsy (BFNE), KCNQ2 mutations have been recently found in families with one or more family members with a severe outcome, including drug-resistant seizures with psychomotor retardation, electroencephalogram (EEG) suppression-burst pattern (Ohtahara syndrome), and distinct neuroradiological features, a condition that was named "KCNQ2 encephalopathy."
|
24375629 |
2014 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We found suggestive linkage of the BFNC phenotype to the 20q13-EBN1 locus (lod score, 2.03) and an intronic mutation IVS14-6 C>A in KCNQ2 segregating with the trait in all affected members, but absent in 100 unrelated control subjects.
|
16686649 |
2006 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.
|
20119593 |
2010 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.
|
19453707 |
2009 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The open reading frame of the translated protein comprises 852 amino acids with 6 transmembrane segments and a pore motif between S5 and S6. rKCNQ2 shares 96% amino acid identity with human KCNQ2 in which mutations cause a form of epilepsy known as benign familial neonatal convulsions (BFNC).
|
11038262 |
2000 |
|
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Heterozygous inherited mutations in their principle subunits K<sub>v</sub> 7.2/KCNQ2 and K<sub>v</sub> 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K<sub>v</sub> 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism.
|
31283873 |
2020 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a four-generation BFNC family carrying a novel mutation within the distal, unconserved C-terminal domain of KCNQ2, a 1-bp deletion, 2513delG, in codon 838 predicting substitution of the last seven and extension by another 56 amino acids.
|
10482260 |
1999 |
|
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several mutations of either KCNQ2 or KCNQ3, members of the KCNQ-related K+-channel (KCNQ-channel) family, were identified as a cause of BFNC.
|
12383278 |
2002 |
|
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
CTD_human |
Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.
|
26910900 |
2016 |