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