MCID: KCN010
MIFTS: 27

Kcnq2-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Kcnq2-Related Disorders

MalaCards integrated aliases for Kcnq2-Related Disorders:

Name: Kcnq2-Related Disorders 24 52 29 6

Characteristics:

GeneReviews:

24
Penetrance For kcnq2-bfne, penetrance is incomplete, with about 77%-85% of individuals heterozygous for a pathogenic variant in kcnq2 showing neonatal or early-infantile seizures [plouin & neubauer 2012, grinton et al 2015]....

Classifications:



Summaries for Kcnq2-Related Disorders

NIH Rare Diseases : 52 KCNQ2 -related disorders are a group of epileptic diseases that start during the first 4 weeks of a child's life (neonatal period). The groups is made up of various different diseases whose signs and symptoms vary. The conditions range from the less severe form KCNQ2 -related benign familial neonatal epilepsy (KCNQ2-BFNE) to the more severe form KCNQ2 -related epileptic encephalopathy (KCNQ2-NEE). KCNQ2-BFNE is characterized by seizures that start in otherwise healthy infants around day 3 of life and usually go away within 1 to 4 months. KCNQ2-NEE is characterized by epilepsy and profound intellectual disability and seizures that begin in the first weeks of life and typically show little response to treatment. They usually go away in a few months to a few years but can return later in childhood. These disorders are caused by mutations in the KCNQ2 gene . Inheritance is autosomal dominant . Treatment is with antiseizure medications.

MalaCards based summary : Kcnq2-Related Disorders is related to epileptic encephalopathy, early infantile, 7 and benign familial neonatal epilepsy. An important gene associated with Kcnq2-Related Disorders is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2), and among its related pathways/superpathways are Circadian entrainment and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain and testes.

GeneReviews: NBK32534

Related Diseases for Kcnq2-Related Disorders

Diseases related to Kcnq2-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 35, show less)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 7 29.9 KCNQ3 KCNQ2
2 benign familial neonatal epilepsy 29.9 KCNQ3 KCNQ2
3 seizures, benign familial neonatal, 1 10.2
4 status epilepticus 10.2
5 seizures, benign familial neonatal, 2 9.8 KCNQ3 KCNQ2
6 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 9.8 KCNQ3 KCNQ2
7 early onset absence epilepsy 9.8 KCNQ3 KCNQ2
8 epilepsy, nocturnal frontal lobe, 1 9.8 KCNQ3 KCNQ2
9 eastern equine encephalitis 9.8 KCNQ3 KCNQ2
10 adolescence-adult electroclinical syndrome 9.8 KCNQ3 KCNQ2
11 electroclinical syndrome 9.8 KCNQ3 KCNQ2
12 infancy electroclinical syndrome 9.7 KCNQ3 KCNQ2
13 episodic ataxia, type 1 9.7 KCNQ3 KCNQ2
14 episodic ataxia 9.7 KCNQ3 KCNQ2
15 dyskeratosis congenita, autosomal dominant 1 9.7 KCNQ3 KCNQ2
16 photosensitive epilepsy 9.7 KCNQ3 KCNQ2
17 childhood electroclinical syndrome 9.7 KCNQ3 KCNQ2
18 benign neonatal seizures 9.7 KCNQ3 KCNQ2
19 neonatal period electroclinical syndrome 9.7 KCNQ3 KCNQ2
20 benign familial infantile epilepsy 9.7 KCNQ3 KCNQ2
21 lennox-gastaut syndrome 9.7 KCNQ3 KCNQ2
22 autosomal dominant nocturnal frontal lobe epilepsy 9.7 KCNQ3 KCNQ2
23 early myoclonic encephalopathy 9.7 KCNQ3 KCNQ2
24 epileptic encephalopathy, early infantile, 6 9.7 KCNQ3 KCNQ2
25 generalized epilepsy with febrile seizures plus 9.7 KCNQ3 KCNQ2
26 epilepsy, myoclonic juvenile 9.7 KCNQ3 KCNQ2
27 long qt syndrome 1 9.6 KCNQ3 KCNQ2
28 long qt syndrome 9.6 KCNQ3 KCNQ2
29 benign epilepsy with centrotemporal spikes 9.6 KCNQ3 KCNQ2
30 childhood absence epilepsy 9.6 KCNQ3 KCNQ2
31 epilepsy, idiopathic generalized 9.6 KCNQ3 KCNQ2
32 focal epilepsy 9.5 KCNQ3 KCNQ2
33 west syndrome 9.5 KCNQ3 KCNQ2
34 early infantile epileptic encephalopathy 9.4 KCNQ3 KCNQ2
35 migraine with or without aura 1 9.2 KCNQ3 KCNQ2

Graphical network of the top 20 diseases related to Kcnq2-Related Disorders:



Diseases related to Kcnq2-Related Disorders

Symptoms & Phenotypes for Kcnq2-Related Disorders

Drugs & Therapeutics for Kcnq2-Related Disorders

Search Clinical Trials , NIH Clinical Center for Kcnq2-Related Disorders

Genetic Tests for Kcnq2-Related Disorders

Genetic tests related to Kcnq2-Related Disorders:

# Genetic test Affiliating Genes
1 Kcnq2-Related Disorders 29

Anatomical Context for Kcnq2-Related Disorders

MalaCards organs/tissues related to Kcnq2-Related Disorders:

40
Brain, Testes

Publications for Kcnq2-Related Disorders

Articles related to Kcnq2-Related Disorders:

(showing 87, show less)
# Title Authors PMID Year
1
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy. 24
26271793 2016
2
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. 24
26446091 2016
3
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. 24
26384929 2015
4
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 24
25959266 2015
5
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin. 24
26073431 2015
6
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 24
26291284 2015
7
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes. 24
26073591 2015
8
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels. 24
26007637 2015
9
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 24
25982755 2015
10
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. 24
26030193 2015
11
Early and effective treatment of KCNQ2 encephalopathy. 24
25880994 2015
12
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 24
25740509 2015
13
The variable phenotypes of KCNQ-related epilepsy. 24
25052858 2014
14
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24
24463883 2014
15
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 24
24318194 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
24375629 2014
17
KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. 24
24371303 2014
18
Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? 24
25566516 2014
19
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24
24107868 2013
20
De novo mutations in epileptic encephalopathies. 24
23934111 2013
21
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 24
23708187 2013
22
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 24
23621294 2013
23
Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data. 24
23774309 2013
24
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 24
23692823 2013
25
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 24
23360469 2013
26
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. 24
23440208 2013
27
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. 24
25667822 2013
28
KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 24
22884718 2012
29
Retigabine as adjunctive therapy in adults with partial-onset seizures: integrated analysis of three pivotal controlled trials. 24
22512894 2012
30
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 24
22926866 2012
31
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. 24
22169383 2012
32
Ohtahara syndrome with emphasis on recent genetic discovery. 24
21967765 2012
33
A systematic review of the pharmacokinetics of antiepileptic drugs in neonates with refractory seizures. 24
23118657 2012
34
Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 24
22196487 2012
35
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 24
22275249 2012
36
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 24
22243967 2012
37
Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. 24
22013194 2011
38
A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence. 24
21502606 2011
39
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome. 24
20939888 2010
40
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 24
20805988 2010
41
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 24
20196795 2010
42
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. 24
19822871 2009
43
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
19344764 2009
44
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. 24
18640800 2009
45
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 24
18625963 2008
46
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion. 24
18353052 2008
47
Molecular pharmacology and therapeutic potential of neuronal Kv7-modulating drugs. 24
18061539 2008
48
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. 24
17675531 2007
49
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. 24
17872363 2007
50
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. 24
17851150 2007
51
Benign familial neonatal convulsions: always benign? 24
17129708 2007
52
Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2. 24
16691402 2006
53
Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review. 24
16835934 2006
54
A novel SCN2A mutation in family with benign familial infantile seizures. 24
16417554 2006
55
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. 24
16260777 2006
56
Neonatal seizures with tonic clonic sequences and poor developmental outcome. 24
16039833 2005
57
De novo KCNQ2 mutations in patients with benign neonatal seizures. 24
15596769 2004
58
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 24
15249611 2004
59
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 24
15159330 2004
60
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 24
15048894 2004
61
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 24
14534157 2003
62
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. 24
12847176 2003
63
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 24
12742592 2003
64
KCNQ1 gain-of-function mutation in familial atrial fibrillation. 24
12522251 2003
65
Sodium-channel defects in benign familial neonatal-infantile seizures. 24
12243921 2002
66
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. 24
11897828 2002
67
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. 24
11784811 2002
68
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 24
11572947 2001
69
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. 24
11422340 2001
70
Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. 24
10781098 2000
71
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 24
10025409 1999
72
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 24
9872318 1998
73
KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. 24
9836639 1998
74
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 24
9425895 1998
75
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. 24
9425900 1998
76
A potassium channel mutation in neonatal human epilepsy. 24
9430594 1998
77
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. 24
9217679 1997
78
Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions. 24
9165519 1997
79
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. 24
9147652 1997
80
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 24
8528244 1996
81
Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 24
8327138 1993
82
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 24
2502382 1989
83
Phenobarbital and phenytoin in neonatal seizures: metabolism and tissue distribution. 24
7196530 1981
84
Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 24
6965523 1980
85
Benign familial neonatal convulsions. 24
5706374 1968
86
Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review. 61
30771507 2020
87
KCNQ2-Related Disorders 61
20437616 2010

Variations for Kcnq2-Related Disorders

ClinVar genetic disease variations for Kcnq2-Related Disorders:

6 (showing 51, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)SNV Pathogenic/Likely pathogenic 120176 rs587777219 20:62073781-62073781 20:63442428-63442428
2 KCNQ2 NM_172107.4(KCNQ2):c.724T>G (p.Cys242Gly)SNV Likely pathogenic 545120 rs1555871915 20:62073851-62073851 20:63442498-63442498
3 KCNQ2 NM_172107.4(KCNQ2):c.691-5C>TSNV Conflicting interpretations of pathogenicity 339336 rs886056921 20:62073889-62073889 20:63442536-63442536
4 KCNQ2 NM_172107.4(KCNQ2):c.2049C>T (p.His683=)SNV Conflicting interpretations of pathogenicity 339331 rs150982653 20:62038567-62038567 20:63407214-63407214
5 KCNQ2 NM_172107.4(KCNQ2):c.816+9T>CSNV Conflicting interpretations of pathogenicity 339334 rs772235691 20:62073750-62073750 20:63442397-63442397
6 KCNQ2 NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)SNV Conflicting interpretations of pathogenicity 21764 rs117067974 20:62045527-62045527 20:63414174-63414174
7 KCNQ2 NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)SNV Conflicting interpretations of pathogenicity 138028 rs369438374 20:62039826-62039826 20:63408473-63408473
8 KCNQ2 NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=)SNV Conflicting interpretations of pathogenicity 339332 rs781056597 20:62050992-62050992 20:63419639-63419639
9 KCNQ2 NM_172107.4(KCNQ2):c.387+9C>TSNV Conflicting interpretations of pathogenicity 339337 rs751969586 20:62078091-62078091 20:63446738-63446738
10 KCNQ2 NM_172107.4(KCNQ2):c.900C>T (p.Ile300=)SNV Conflicting interpretations of pathogenicity 339333 rs764404303 20:62070978-62070978 20:63439625-63439625
11 KCNQ2 NM_172107.4(KCNQ2):c.-107G>ASNV Uncertain significance 339341 rs886056923 20:62103923-62103923 20:63472570-63472570
12 KCNQ2 NM_172107.4(KCNQ2):c.185C>G (p.Ala62Gly)SNV Uncertain significance 339338 rs796052612 20:62103632-62103632 20:63472279-63472279
13 KCNQ2 NM_172107.3(KCNQ2):c.2252C>T (p.Ser751Leu)SNV Uncertain significance 339329 rs774002673 20:62038364-62038364 20:63407011-63407011
14 KCNQ2 NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser)SNV Uncertain significance 339330 rs755013341 20:62038407-62038407 20:63407054-63407054
15 KCNQ2 NM_172107.4(KCNQ2):c.*413G>ASNV Uncertain significance 339323 rs886056919 20:62037584-62037584 20:63406231-63406231
16 KCNQ2 NM_172107.4(KCNQ2):c.*412C>TSNV Uncertain significance 339324 rs886056920 20:62037585-62037585 20:63406232-63406232
17 KCNQ2 NM_172107.4(KCNQ2):c.-83G>TSNV Uncertain significance 339339 rs886056922 20:62103899-62103899 20:63472546-63472546
18 KCNQ2 NM_172107.4(KCNQ2):c.-169G>TSNV Uncertain significance 339343 rs886056924 20:62103985-62103985 20:63472632-63472632
19 KCNQ2 NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)SNV Uncertain significance 339328 rs758071891 20:62038147-62038147 20:63406794-63406794
20 KCNQ2 NM_172107.4(KCNQ2):c.*110G>ASNV Likely benign 339327 rs141692577 20:62037887-62037887 20:63406534-63406534
21 KCNQ2 NM_172107.4(KCNQ2):c.-150C>ASNV Likely benign 339342 rs554261385 20:62103966-62103966 20:63472613-63472613
22 KCNQ2 NM_172107.4(KCNQ2):c.*421C>TSNV Likely benign 339322 rs578175518 20:62037576-62037576 20:63406223-63406223
23 KCNQ2 NM_172107.4(KCNQ2):c.-42G>TSNV Likely benign 138036 rs577705653 20:62103858-62103858 20:63472505-63472505
24 KCNQ2 NM_172107.4(KCNQ2):c.691-13G>ASNV Likely benign 205816 rs547887704 20:62073897-62073897 20:63442544-63442544
25 KCNQ2 NM_172107.4(KCNQ2):c.741G>A (p.Ser247=)SNV Likely benign 339335 rs184792288 20:62073834-62073834 20:63442481-63442481
26 KCNQ2 NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val)SNV Likely benign 205902 rs201750561 20:62051020-62051020 20:63419667-63419667
27 KCNQ2 NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=)SNV Benign/Likely benign 205833 rs200395340 20:62065215-62065215 20:63433862-63433862
28 KCNQ2 NM_172107.4(KCNQ2):c.*4G>ASNV Benign/Likely benign 167205 rs1801508 20:62037993-62037993 20:63406640-63406640
29 KCNQ2 NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu)SNV Benign/Likely benign 205848 rs201701585 20:62038551-62038551 20:63407198-63407198
30 KCNQ2 NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)SNV Benign/Likely benign 129332 rs146492238 20:62046433-62046433 20:63415080-63415080
31 KCNQ2 NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=)SNV Benign/Likely benign 129338 rs61737409 20:62044847-62044847 20:63413494-63413494
32 KCNQ2 NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)SNV Benign/Likely benign 129340 rs35647984 20:62038585-62038585 20:63407232-63407232
33 KCNQ2 NM_172107.4(KCNQ2):c.754T>C (p.Leu252=)SNV Benign/Likely benign 138016 rs370174915 20:62073821-62073821 20:63442468-63442468
34 KCNQ2 NM_172107.4(KCNQ2):c.888C>T (p.Thr296=)SNV Benign/Likely benign 138017 rs370760854 20:62070990-62070990 20:63439637-63439637
35 KCNQ2 NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=)SNV Benign/Likely benign 138024 rs141951341 20:62046323-62046323 20:63414970-63414970
36 KCNQ2 NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)SNV Benign/Likely benign 138026 rs35450031 20:62044877-62044877 20:63413524-63413524
37 KCNQ2 NM_172107.4(KCNQ2):c.-11C>TSNV Benign/Likely benign 138037 rs182089624 20:62103827-62103827 20:63472474-63472474
38 KCNQ2 NM_172107.4(KCNQ2):c.81G>A (p.Leu27=)SNV Benign/Likely benign 138038 rs373897282 20:62103736-62103736 20:63472383-63472383
39 KCNQ2 NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=)SNV Benign/Likely benign 138030 rs187252584 20:62038510-62038510 20:63407157-63407157
40 KCNQ2 NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)SNV Benign/Likely benign 138032 rs140674819 20:62038087-62038087 20:63406734-63406734
41 KCNQ2 NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)SNV Benign/Likely benign 138033 rs147274045 20:62038072-62038072 20:63406719-63406719
42 KCNQ2 NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)SNV Benign/Likely benign 138034 rs3810472 20:62038060-62038060 20:63406707-63406707
43 KCNQ2 NM_172107.4(KCNQ2):c.*248C>TSNV Benign 339326 rs6122440 20:62037749-62037749 20:63406396-63406396
44 KCNQ2 NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)SNV Benign 129341 rs139587368 20:62038381-62038381 20:63407028-63407028
45 KCNQ2 NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)SNV Benign 129342 rs1801471 20:62038378-62038378 20:63407025-63407025
46 KCNQ2 NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)SNV Benign 129344 rs147882199 20:62073861-62073861 20:63442508-63442508
47 KCNQ2 NM_172107.4(KCNQ2):c.912C>T (p.Phe304=)SNV Benign 129345 rs2297385 20:62070966-62070966 20:63439613-63439613
48 KCNQ2 NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)SNV Benign 129337 rs1801545 20:62046278-62046278 20:63414925-63414925
49 KCNQ2 NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)SNV Benign 21779 rs1801475 20:62038277-62038277 20:63406924-63406924
50 KCNQ2 NM_172107.4(KCNQ2):c.*295C>TSNV Benign 339325 rs34690549 20:62037702-62037702 20:63406349-63406349
51 KCNQ2 NM_172107.4(KCNQ2):c.-88G>TSNV Benign 339340 rs185287315 20:62103904-62103904 20:63472551-63472551

Expression for Kcnq2-Related Disorders

Search GEO for disease gene expression data for Kcnq2-Related Disorders.

Pathways for Kcnq2-Related Disorders

GO Terms for Kcnq2-Related Disorders

Cellular components related to Kcnq2-Related Disorders according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.16 KCNQ3 KCNQ2
2 axon initial segment GO:0043194 8.96 KCNQ3 KCNQ2
3 node of Ranvier GO:0033268 8.62 KCNQ3 KCNQ2

Biological processes related to Kcnq2-Related Disorders according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.37 KCNQ3 KCNQ2
2 transmembrane transport GO:0055085 9.32 KCNQ3 KCNQ2
3 chemical synaptic transmission GO:0007268 9.26 KCNQ3 KCNQ2
4 regulation of ion transmembrane transport GO:0034765 9.16 KCNQ3 KCNQ2
5 potassium ion transport GO:0006813 8.96 KCNQ3 KCNQ2
6 potassium ion transmembrane transport GO:0071805 8.62 KCNQ3 KCNQ2

Molecular functions related to Kcnq2-Related Disorders according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.32 KCNQ3 KCNQ2
2 voltage-gated ion channel activity GO:0005244 9.26 KCNQ3 KCNQ2
3 potassium channel activity GO:0005267 9.16 KCNQ3 KCNQ2
4 voltage-gated potassium channel activity GO:0005249 8.96 KCNQ3 KCNQ2
5 delayed rectifier potassium channel activity GO:0005251 8.62 KCNQ3 KCNQ2

Sources for Kcnq2-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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