| 1 |
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
4
|
Hewson S...Mercimek-Mahmutoglu S
|
28602030
|
2017 |
| 2 |
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
4
|
Lehman A...Claydon T
|
28669405
|
2017 |
| 3 |
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
4
|
Olson HE...Poduri A
|
28133863
|
2017 |
| 4 |
Prevalence and architecture of de novo mutations in developmental disorders.
4
|
Deciphering Developmental Disorders Study
|
28135719
|
2017 |
| 5 |
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
4
|
Sands TT...Cilio MR
|
27888506
|
2016 |
| 6 |
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
4
|
Millichap JJ...Cooper EC
|
27602407
|
2016 |
| 7 |
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.
4
|
Maljevic S...Syrbe S
|
27781029
|
2016 |
| 8 |
Novel genetic causes for cerebral visual impairment.
4
|
Bosch DG...de Vries BB
|
26350515
|
2016 |
| 9 |
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
4
|
Milh M...Villard L
|
25959266
|
2015 |
| 10 |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
4
|
Grinton BE...Berkovic SF
|
25982755
|
2015 |
| 11 |
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
4
|
Miceli F...Taglialatela M
|
25740509
|
2015 |
| 12 |
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
4
|
Miceli F...Mangano S
|
25524373
|
2015 |
| 13 |
A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes.
4
|
Fusco C...Bassi MT
|
25278462
|
2015 |
| 14 |
The variable phenotypes of KCNQ-related epilepsy.
4
|
Allen NM...King MD
|
25052858
|
2014 |
| 15 |
Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons.
4
|
Battefeld A...Kole MH
|
24599470
|
2014 |
| 16 |
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
4
|
Soldovieri MV...Lesca G
|
24375629
|
2014 |
| 17 |
De novo mutations in epileptic encephalopathies.
4
|
Epi4K Consortium...Winawer MR
|
23934111
|
2013 |
| 18 |
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.
4
|
Fister P...Paro-Panjan D
|
23146207
|
2013 |
| 19 |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
4
|
Zara F...Minetti C
|
23360469
|
2013 |
| 20 |
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.
4
|
Gilling M...Tommerup N
|
23596459
|
2013 |
| 21 |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
4
|
Rauch A...Strom TM
|
23020937
|
2012 |
| 22 |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
4
|
Lemke JR...Biskup S
|
22612257
|
2012 |
| 23 |
Retigabine as adjunctive therapy in adults with partial-onset seizures: integrated analysis of three pivotal controlled trials.
4
|
Porter RJ...DeRossett SE
|
22512894
|
2012 |
| 24 |
A systematic review of the pharmacokinetics of antiepileptic drugs in neonates with refractory seizures.
4
|
Tulloch JK...Ensom MH
|
23118657
|
2012 |
| 25 |
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
4
|
Heron SE...Dibbens LM
|
22243967
|
2012 |
| 26 |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
4
|
Weckhuysen S...de Jonghe P
|
22275249
|
2012 |
| 27 |
Driving with no brakes: molecular pathophysiology of Kv7 potassium channels.
4
|
Soldovieri MV...Taglialatela M
|
22013194
|
2011 |
| 28 |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
4
|
Berg AT...Scheffer IE
|
20196795
|
2010 |
| 29 |
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
4
|
Hahn A...Neubauer BA
|
19464834
|
2009 |
| 30 |
Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures.
4
|
Miceli F...Taglialatela M
|
19344764
|
2009 |
| 31 |
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).
4
|
Sugiura Y...Ugawa Y
|
19167866
|
2009 |
| 32 |
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
4
|
Neubauer BA...Sander T
|
18625963
|
2008 |
| 33 |
Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy.
4
|
Uehara A...Uehara K
|
18425618
|
2008 |
| 34 |
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.
4
|
Li H...Tang B
|
18249525
|
2008 |
| 35 |
Somatodendritic Kv7/KCNQ/M channels control interspike interval in hippocampal interneurons.
4
|
Lawrence JJ...McBain CJ
|
17122058
|
2006 |
| 36 |
[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].
4
|
Li HY...Yang QA
|
16883520
|
2006 |
| 37 |
A novel SCN2A mutation in family with benign familial infantile seizures.
4
|
Striano P...Zara F
|
16417554
|
2006 |
| 38 |
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
4
|
Bassi MT...Taglialatela M
|
16235065
|
2005 |
| 39 |
Pathways modulating neural KCNQ/M (Kv7) potassium channels.
4
|
Delmas P...Brown DA
|
16261179
|
2005 |
| 40 |
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
4
|
Bellocq C...Wilde AA
|
15159330
|
2004 |
| 41 |
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
4
|
Singh NA...BFNC Physician Consortium
|
14534157
|
2003 |
| 42 |
KCNQ1 gain-of-function mutation in familial atrial fibrillation.
4
|
Chen YH...Huang W
|
12522251
|
2003 |
| 43 |
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology.
4
|
Engel J...International League Against Epilepsy (ILAE)
|
11422340
|
2001 |
| 44 |
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.
4
|
Hirose S...Mitsudome A
|
10852552
|
2000 |
| 45 |
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
4
|
Kubisch C...Jentsch TJ
|
10025409
|
1999 |
| 46 |
KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.
4
|
Wang HS...McKinnon D
|
9836639
|
1998 |
| 47 |
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
4
|
Charlier C...Leppert M
|
9425900
|
1998 |
| 48 |
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.
4
|
Guipponi M...Malafosse A
|
9147652
|
1997 |
| 49 |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
4
|
Wang Q...Keating MT
|
8528244
|
1996 |
| 50 |
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
4
|
Ronen GM...Leppert M
|
8327138
|
1993 |
