Kcnq3-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KCN014 MIFTS: 9	Kcnq3-Related Disorders
Genes Tissues Related diseases Publications Expand all tables

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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]....

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Summaries for Kcnq3-Related Disorders

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

GeneReviews: NBK201978

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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
1	seizures, benign familial neonatal, 2	10.1
2	abnormal hair, joint laxity, and developmental delay	10.1
3	cyanosis, transient neonatal	10.1
4	alacrima, achalasia, and mental retardation syndrome	10.1
5	benign familial infantile epilepsy	10.1
6	benign familial neonatal epilepsy	10.1
7	hypertonia	10.1
8	seizure disorder	10.1
9	cerebral visual impairment	10.1
10	infantile epilepsy syndrome	10.1

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

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Symptoms & Phenotypes for Kcnq3-Related Disorders

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Drugs & Therapeutics for Kcnq3-Related Disorders

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

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Genetic Tests for Kcnq3-Related Disorders

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Anatomical Context for Kcnq3-Related Disorders

MalaCards organs/tissues related to Kcnq3-Related Disorders:

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Testes

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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. 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	Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. ²⁴	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. ²⁴	Soldovieri MV...Lesca G	24375629	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	Targeted next generation sequencing as a diagnostic tool in epileptic disorders. ²⁴	Lemke JR...Biskup S	22612257	2012
23	Retigabine as adjunctive therapy in adults with partial-onset seizures: integrated analysis of three pivotal controlled trials. ²⁴	Porter RJ...DeRossett SE	22512894	2012
24	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. ²⁴	Heron SE...Dibbens LM	22243967	2012
25	A systematic review of the pharmacokinetics of antiepileptic drugs in neonates with refractory seizures. ²⁴	Tulloch JK...Ensom MH	23118657	2012
26	KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. ²⁴	Weckhuysen S...de Jonghe P	22275249	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

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Genes for Kcnq3-Related Disorders

Genes related to Kcnq3-Related Disorders (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	6.96	GeneCards inferred via : Publications (show sections)

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Variations for Kcnq3-Related Disorders

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Expression for Kcnq3-Related Disorders

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

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Pathways for Kcnq3-Related Disorders

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GO Terms for Kcnq3-Related Disorders

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