MCID: KCN014
MIFTS: 10

Kcnq3-Related Disorders

Aliases & Classifications for Kcnq3-Related Disorders

MalaCards integrated aliases for Kcnq3-Related Disorders:

Name: Kcnq3-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance In kcnq3-related bfne, penetrance is incomplete (0.8-0.85): bfne is found in 47 of 54 individuals with a kcnq3 pathogenic variant [charlier et al 1998, hirose et al 2000, singh et al 2003, li et al 2006, li et al 2008, neubauer et al 2008, fister et al 2013, allen et al 2014, soldovieri et al 2014, grinton et al 2015, miceli et al 2015b, maljevic et al 2016, sands et al 2016]....

Summaries for Kcnq3-Related Disorders

MalaCards based summary : Kcnq3-Related Disorders is related to seizures, benign familial neonatal, 2 and cyanosis, transient neonatal. An important gene associated with Kcnq3-Related Disorders is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3). Affiliated tissues include testes.

GeneReviews: NBK201978

Related Diseases for Kcnq3-Related Disorders

Diseases related to Kcnq3-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 seizures, benign familial neonatal, 2 10.1
2 cyanosis, transient neonatal 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 benign familial infantile epilepsy 10.1
5 benign familial neonatal epilepsy 10.1
6 hypertonia 10.1
7 seizure disorder 10.1
8 cerebral visual impairment 10.1
9 infantile epilepsy syndrome 10.1

Graphical network of the top 20 diseases related to Kcnq3-Related Disorders:



Diseases related to Kcnq3-Related Disorders

Symptoms & Phenotypes for Kcnq3-Related Disorders

Drugs & Therapeutics for Kcnq3-Related Disorders

Search Clinical Trials , NIH Clinical Center for Kcnq3-Related Disorders

Genetic Tests for Kcnq3-Related Disorders

Anatomical Context for Kcnq3-Related Disorders

MalaCards organs/tissues related to Kcnq3-Related Disorders:

41
Testes

Publications for Kcnq3-Related Disorders

Articles related to Kcnq3-Related Disorders:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 4
28602030 2017
2
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 4
28669405 2017
3
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. 4
28133863 2017
4
Prevalence and architecture of de novo mutations in developmental disorders. 4
28135719 2017
5
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. 4
27888506 2016
6
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 4
27602407 2016
7
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. 4
27781029 2016
8
Novel genetic causes for cerebral visual impairment. 4
26350515 2016
9
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 4
25959266 2015
10
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 4
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
25740509 2015
12
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. 4
25524373 2015
13
A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes. 4
25278462 2015
14
The variable phenotypes of KCNQ-related epilepsy. 4
25052858 2014
15
Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. 4
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
24375629 2014
17
De novo mutations in epileptic encephalopathies. 4
23934111 2013
18
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. 4
23146207 2013
19
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 4
23360469 2013
20
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. 4
23596459 2013
21
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 4
23020937 2012
22
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 4
22612257 2012
23
Retigabine as adjunctive therapy in adults with partial-onset seizures: integrated analysis of three pivotal controlled trials. 4
22512894 2012
24
A systematic review of the pharmacokinetics of antiepileptic drugs in neonates with refractory seizures. 4
23118657 2012
25
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 4
22243967 2012
26
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 4
22275249 2012
27
Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. 4
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
20196795 2010
29
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 4
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
19344764 2009
31
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC). 4
19167866 2009
32
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 4
18625963 2008
33
Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy. 4
18425618 2008
34
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 4
18249525 2008
35
Somatodendritic Kv7/KCNQ/M channels control interspike interval in hippocampal interneurons. 4
17122058 2006
36
[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions]. 4
16883520 2006
37
A novel SCN2A mutation in family with benign familial infantile seizures. 4
16417554 2006
38
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). 4
16235065 2005
39
Pathways modulating neural KCNQ/M (Kv7) potassium channels. 4
16261179 2005
40
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 4
15159330 2004
41
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 4
14534157 2003
42
KCNQ1 gain-of-function mutation in familial atrial fibrillation. 4
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
11422340 2001
44
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. 4
10852552 2000
45
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 4
10025409 1999
46
KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. 4
9836639 1998
47
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. 4
9425900 1998
48
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. 4
9147652 1997
49
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 4
8528244 1996
50
Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 4
8327138 1993

Variations for Kcnq3-Related Disorders

Expression for Kcnq3-Related Disorders

Search GEO for disease gene expression data for Kcnq3-Related Disorders.

Pathways for Kcnq3-Related Disorders

GO Terms for Kcnq3-Related Disorders

Sources for Kcnq3-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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40 LOVD
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44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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