MCID: KCN010
MIFTS: 7

Kcnq2-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Kcnq2-Related Disorders

MalaCards integrated aliases for Kcnq2-Related Disorders:

Name: Kcnq2-Related Disorders 24 53 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 : 53 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 An important gene associated with Kcnq2-Related Disorders is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2).

GeneReviews: NBK32534

Related Diseases for 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

Publications for Kcnq2-Related Disorders

Articles related to Kcnq2-Related Disorders:

# Title Authors Year
1
KCNQ2-Related Disorders ( 20437616 )
1993

Variations for Kcnq2-Related Disorders

ClinVar genetic disease variations for Kcnq2-Related Disorders:

6
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic rs587777219 GRCh37 Chromosome 20, 62073781: 62073781
2 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic rs587777219 GRCh38 Chromosome 20, 63442428: 63442428
3 KCNQ2 NM_172107.3(KCNQ2): c.*4G> A single nucleotide variant Benign/Likely benign rs1801508 GRCh37 Chromosome 20, 62037993: 62037993
4 KCNQ2 NM_172107.3(KCNQ2): c.*4G> A single nucleotide variant Benign/Likely benign rs1801508 GRCh38 Chromosome 20, 63406640: 63406640
5 KCNQ2 NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu) single nucleotide variant Benign/Likely benign rs201701585 GRCh38 Chromosome 20, 63407198: 63407198
6 KCNQ2 NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu) single nucleotide variant Benign/Likely benign rs201701585 GRCh37 Chromosome 20, 62038551: 62038551
7 KCNQ2 NM_172107.3(KCNQ2): c.1253G> T (p.Gly418Val) single nucleotide variant Likely benign rs201750561 GRCh38 Chromosome 20, 63419667: 63419667
8 KCNQ2 NM_172107.3(KCNQ2): c.1253G> T (p.Gly418Val) single nucleotide variant Likely benign rs201750561 GRCh37 Chromosome 20, 62051020: 62051020
9 KCNQ2 NM_172107.3(KCNQ2): c.1065C> T (p.Asp355=) single nucleotide variant Benign/Likely benign rs200395340 GRCh38 Chromosome 20, 63433862: 63433862
10 KCNQ2 NM_172107.3(KCNQ2): c.1065C> T (p.Asp355=) single nucleotide variant Benign/Likely benign rs200395340 GRCh37 Chromosome 20, 62065215: 62065215
11 KCNQ2 NM_172107.3(KCNQ2): c.691-13G> A single nucleotide variant Likely benign rs547887704 GRCh38 Chromosome 20, 63442544: 63442544
12 KCNQ2 NM_172107.3(KCNQ2): c.691-13G> A single nucleotide variant Likely benign rs547887704 GRCh37 Chromosome 20, 62073897: 62073897
13 KCNQ2 NM_172107.3(KCNQ2): c.*413G> A single nucleotide variant Uncertain significance rs886056919 GRCh37 Chromosome 20, 62037584: 62037584
14 KCNQ2 NM_172107.3(KCNQ2): c.*413G> A single nucleotide variant Uncertain significance rs886056919 GRCh38 Chromosome 20, 63406231: 63406231
15 KCNQ2 NM_172107.3(KCNQ2): c.*412C> T single nucleotide variant Uncertain significance rs886056920 GRCh37 Chromosome 20, 62037585: 62037585
16 KCNQ2 NM_172107.3(KCNQ2): c.*412C> T single nucleotide variant Uncertain significance rs886056920 GRCh38 Chromosome 20, 63406232: 63406232
17 KCNQ2 NM_172107.3(KCNQ2): c.*248C> T single nucleotide variant Benign rs6122440 GRCh37 Chromosome 20, 62037749: 62037749
18 KCNQ2 NM_172107.3(KCNQ2): c.*248C> T single nucleotide variant Benign rs6122440 GRCh38 Chromosome 20, 63406396: 63406396
19 KCNQ2 NM_172107.3(KCNQ2): c.1281A> G (p.Gly427=) single nucleotide variant Uncertain significance rs781056597 GRCh37 Chromosome 20, 62050992: 62050992
20 KCNQ2 NM_172107.3(KCNQ2): c.1281A> G (p.Gly427=) single nucleotide variant Uncertain significance rs781056597 GRCh38 Chromosome 20, 63419639: 63419639
21 KCNQ2 NM_172107.3(KCNQ2): c.387+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs751969586 GRCh37 Chromosome 20, 62078091: 62078091
22 KCNQ2 NM_172107.3(KCNQ2): c.387+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs751969586 GRCh38 Chromosome 20, 63446738: 63446738
23 KCNQ2 NM_172107.3(KCNQ2): c.185C> G (p.Ala62Gly) single nucleotide variant Uncertain significance rs796052612 GRCh38 Chromosome 20, 63472279: 63472279
24 KCNQ2 NM_172107.3(KCNQ2): c.185C> G (p.Ala62Gly) single nucleotide variant Uncertain significance rs796052612 GRCh37 Chromosome 20, 62103632: 62103632
25 KCNQ2 NM_172107.3(KCNQ2): c.2252C> T (p.Ser751Leu) single nucleotide variant Uncertain significance rs774002673 GRCh37 Chromosome 20, 62038364: 62038364
26 KCNQ2 NM_172107.3(KCNQ2): c.2252C> T (p.Ser751Leu) single nucleotide variant Uncertain significance rs774002673 GRCh38 Chromosome 20, 63407011: 63407011
27 KCNQ2 NM_172107.3(KCNQ2): c.2209G> A (p.Gly737Ser) single nucleotide variant Uncertain significance rs755013341 GRCh37 Chromosome 20, 62038407: 62038407
28 KCNQ2 NM_172107.3(KCNQ2): c.2209G> A (p.Gly737Ser) single nucleotide variant Uncertain significance rs755013341 GRCh38 Chromosome 20, 63407054: 63407054
29 KCNQ2 NM_172107.3(KCNQ2): c.900C> T (p.Ile300=) single nucleotide variant Conflicting interpretations of pathogenicity rs764404303 GRCh37 Chromosome 20, 62070978: 62070978
30 KCNQ2 NM_172107.3(KCNQ2): c.900C> T (p.Ile300=) single nucleotide variant Conflicting interpretations of pathogenicity rs764404303 GRCh38 Chromosome 20, 63439625: 63439625
31 KCNQ2 NM_172107.3(KCNQ2): c.741G> A (p.Ser247=) single nucleotide variant Likely benign rs184792288 GRCh37 Chromosome 20, 62073834: 62073834
32 KCNQ2 NM_172107.3(KCNQ2): c.741G> A (p.Ser247=) single nucleotide variant Likely benign rs184792288 GRCh38 Chromosome 20, 63442481: 63442481
33 KCNQ2 NM_172107.3(KCNQ2): c.-107G> A single nucleotide variant Uncertain significance rs886056923 GRCh38 Chromosome 20, 63472570: 63472570
34 KCNQ2 NM_172107.3(KCNQ2): c.-107G> A single nucleotide variant Uncertain significance rs886056923 GRCh37 Chromosome 20, 62103923: 62103923
35 KCNQ2 NM_172107.3(KCNQ2): c.691-5C> T single nucleotide variant Uncertain significance rs886056921 GRCh37 Chromosome 20, 62073889: 62073889
36 KCNQ2 NM_172107.3(KCNQ2): c.691-5C> T single nucleotide variant Uncertain significance rs886056921 GRCh38 Chromosome 20, 63442536: 63442536
37 KCNQ2 NM_172107.3(KCNQ2): c.-88G> T single nucleotide variant Benign rs185287315 GRCh38 Chromosome 20, 63472551: 63472551
38 KCNQ2 NM_172107.3(KCNQ2): c.-88G> T single nucleotide variant Benign rs185287315 GRCh37 Chromosome 20, 62103904: 62103904
39 KCNQ2 NM_172107.3(KCNQ2): c.*421C> T single nucleotide variant Likely benign rs578175518 GRCh37 Chromosome 20, 62037576: 62037576
40 KCNQ2 NM_172107.3(KCNQ2): c.*421C> T single nucleotide variant Likely benign rs578175518 GRCh38 Chromosome 20, 63406223: 63406223
41 KCNQ2 NM_172107.3(KCNQ2): c.*295C> T single nucleotide variant Benign rs34690549 GRCh37 Chromosome 20, 62037702: 62037702
42 KCNQ2 NM_172107.3(KCNQ2): c.*295C> T single nucleotide variant Benign rs34690549 GRCh38 Chromosome 20, 63406349: 63406349
43 KCNQ2 NM_172107.3(KCNQ2): c.*110G> A single nucleotide variant Likely benign rs141692577 GRCh37 Chromosome 20, 62037887: 62037887
44 KCNQ2 NM_172107.3(KCNQ2): c.*110G> A single nucleotide variant Likely benign rs141692577 GRCh38 Chromosome 20, 63406534: 63406534
45 KCNQ2 NM_172107.3(KCNQ2): c.2469C> T (p.Ala823=) single nucleotide variant Uncertain significance rs758071891 GRCh37 Chromosome 20, 62038147: 62038147
46 KCNQ2 NM_172107.3(KCNQ2): c.2469C> T (p.Ala823=) single nucleotide variant Uncertain significance rs758071891 GRCh38 Chromosome 20, 63406794: 63406794
47 KCNQ2 NM_172107.3(KCNQ2): c.2049C> T (p.His683=) single nucleotide variant Conflicting interpretations of pathogenicity rs150982653 GRCh37 Chromosome 20, 62038567: 62038567
48 KCNQ2 NM_172107.3(KCNQ2): c.2049C> T (p.His683=) single nucleotide variant Conflicting interpretations of pathogenicity rs150982653 GRCh38 Chromosome 20, 63407214: 63407214
49 KCNQ2 NM_172107.3(KCNQ2): c.816+9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs772235691 GRCh37 Chromosome 20, 62073750: 62073750
50 KCNQ2 NM_172107.3(KCNQ2): c.816+9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs772235691 GRCh38 Chromosome 20, 63442397: 63442397

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

Sources for Kcnq2-Related Disorders

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