Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years.
|
12847176 |
2003 |
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 |
Biomarker
|
disease |
BEFREE |
A novel 2-bp deletion within the coding sequence of the potassium channel KCNQ2 gene was detected in patients from a large and heterogeneous family with BNFCs or non-BNFC seizures.
|
15030501 |
2004 |
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 |
In one of those three children, a de novo missense mutation was detected in the voltage gated potassium channel gene KCNQ2, indicating a genetic relationship between drug refractory neonatal seizures of unknown etiology with tonic clonic or myoclonic sequences and the well-known syndrome of benign familial neonatal convulsions (BFNC).
|
16039833 |
2005 |
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 |
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 |
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 |
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 |
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 |
Within this sample we identified private KCNQ2 mutations in 17 BFNC families.
|
17129708 |
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 |
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 |
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 |
This KCNQ2 mutation has implications for diagnosis and prognosis of familial neonatal seizures.
|
19818940 |
2009 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).
|
19464834 |
2009 |
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
CTD_human |
Benign familial neonatal convulsions: novel mutation in a newborn.
|
19380078 |
2009 |
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 |
AlteredExpression
|
disease |
BEFREE |
KCNQ2-5 channels are predominantly expressed in neurons and are important determinants of cellular excitability, as indicated by the occurrence of human genetic mutations in KCNQ channels that underlie inheritable disorders including, in the case of KCNQ2/3, the syndrome of benign familial neonatal convulsions.
|
22220513 |
2012 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions.
|
22884718 |
2012 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Nerve excitability studies were performed on eight adults with KCNQ2 mutations and a history of benign familial neonatal epilepsy, now in remission.
|
23065794 |
2012 |
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 |
Interestingly, in the majority of the cases, the initial epileptic features of these patients were comparable to those previously described in the case of benign familial neonatal epilepsy (BFNE) also caused by KCNQ2 mutations.
|
23692823 |
2013 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE).
|
23073245 |
2013 |
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 |