|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene.
|
31552204 |
2019 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also analyzed 10 affected family members with the same KCNQ2 mutation: all had epilepsy (8 had BFNS and 2 had CSWS).
|
28038823 |
2017 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures.
|
28602030 |
2017 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features.
|
25524373 |
2015 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Kv7.2 (KCNQ2) and Kv7.3 (KCNQ3) genes, encoding for voltage-gated K(+) channel subunits underlying the neuronal M-current, have been associated with a wide spectrum of early-onset epileptic disorders ranging from benign familial neonatal seizures to severe epileptic encephalopathies.
|
25740509 |
2015 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The KCNQ2 variant p.Glu515Asp is known to cause benign familial neonatal seizures-1, and this variant showed paternal inheritance.
|
25819767 |
2015 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy."
|
25052858 |
2014 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNQ2 and KCNQ3, encoding the voltage-gated potassium channels KV 7.2 and KV 7.3, are known to cause benign familial neonatal seizures mainly by haploinsufficiency.
|
24318194 |
2014 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE).
|
23621294 |
2013 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this report is the first of a KCNQ2 mutation in an Emirati family with benign familial neonatal seizures type 1.
|
23290024 |
2013 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We showed that the age of onset of seizures is significantly correlated with underlying genetics, as about 90% of the typical BFNS families are linked to KCNQ2 compared to only 3% of the BFIS families, for which PRRT2 represents the major gene.
|
23360469 |
2013 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS).
|
22275249 |
2012 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No mutations were found in the genes (KCNQ2, KCNQ3) associated with BFNS, and CGH was negative.
|
19863579 |
2010 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNQ2 or KCNQ3 that reduce the M-current are responsible for benign familial neonatal seizures, a rare autosomal dominant idiopathic epilepsy of the newborn.
|
19818940 |
2009 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Benign Familial Neonatal Seizures (BFNS) is a rare, autosomal-dominant epilepsy of the newborn caused by mutations in K(v)7.2 (KCNQ2) or K(v)7.3 (KCNQ3) genes encoding for neuronal potassium (K(+)) channel subunits.
|
19344764 |
2009 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous multiple exonic deletions of KCNQ2 were identified in 4 of 22 patients with BFNS.
|
19822871 |
2009 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This review is focused on recent findings on the neuronal K(V)7 channelopathies, in particular on benign familial neonatal seizures (BFNS) and peripheral nerve hyperexcitability (PNH, neuromyotonia, myokymia) caused by KCNQ2 mutations.
|
18238816 |
2008 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
|
17675531 |
2007 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis in this family confirmed a previous report of genetic heterogeneity in BFIS - since linkage was excluded at the above-mentioned known BFIS loci - and suggested a possible linkage to the KCNQ2 gene, which is believed to be a voltage gated potassium channel gene responsible for benign familial neonatal seizures (BFNS).
|
16691402 |
2006 |
|
Benign Familial Convulsion
|
0.100 |
Biomarker
|
disease |
BEFREE |
These channelopathies include genes encoding voltage-gated channels specific for sodium (SCN1A, SCN2A, SCN1B, SCN9A) and potassium (KCNQ2, KCNQ3) which account for a variety of epilepsy phenotypes ranging from mild, such as Benign familial neonatal seizures (BFNS) to severe, such as Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) and the rare and unusual syndrome paroxysmal extreme pain disorder (PEPD).
|
17049761 |
2006 |
|
Benign Familial Convulsion
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Disease gene identification, such as the two potassium ion channels (KCNQ2 and KCNQ3) for the two forms of benign familial neonatal seizures (BFNC) and the alpha4 subunit of the nicotinic receptor for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), however, should yield significant advances in drug discoveries.
|
10716662 |
1999 |