MCID: KCN010
MIFTS: 8

Kcnq2-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Kcnq2-Related Disorders

MalaCards integrated aliases for Kcnq2-Related Disorders:

Name: Kcnq2-Related Disorders 25 54 30 6

Characteristics:

GeneReviews:

25
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 : 54 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 early infantile epileptic encephalopathy. 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

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

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 9.1 KCNQ2 LOC105372720 LOC105372724

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 30

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 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.*4G> A single nucleotide variant Benign/Likely benign rs1801508 GRCh37 Chromosome 20, 62037993: 62037993
2 KCNQ2 NM_172107.3(KCNQ2): c.*4G> A single nucleotide variant Benign/Likely benign rs1801508 GRCh38 Chromosome 20, 63406640: 63406640
3 KCNQ2 NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu) single nucleotide variant Benign/Likely benign rs201701585 GRCh38 Chromosome 20, 63407198: 63407198
4 KCNQ2 NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu) single nucleotide variant Benign/Likely benign rs201701585 GRCh37 Chromosome 20, 62038551: 62038551
5 KCNQ2 NM_172107.3(KCNQ2): c.1253G> T (p.Gly418Val) single nucleotide variant Likely benign rs201750561 GRCh38 Chromosome 20, 63419667: 63419667
6 KCNQ2 NM_172107.3(KCNQ2): c.1253G> T (p.Gly418Val) single nucleotide variant Likely benign rs201750561 GRCh37 Chromosome 20, 62051020: 62051020
7 KCNQ2 NM_172107.3(KCNQ2): c.1065C> T (p.Asp355=) single nucleotide variant Benign/Likely benign rs200395340 GRCh38 Chromosome 20, 63433862: 63433862
8 KCNQ2 NM_172107.3(KCNQ2): c.1065C> T (p.Asp355=) single nucleotide variant Benign/Likely benign rs200395340 GRCh37 Chromosome 20, 62065215: 62065215
9 KCNQ2 NM_172107.3(KCNQ2): c.691-13G> A single nucleotide variant Likely benign rs547887704 GRCh38 Chromosome 20, 63442544: 63442544
10 KCNQ2 NM_172107.3(KCNQ2): c.691-13G> A single nucleotide variant Likely benign rs547887704 GRCh37 Chromosome 20, 62073897: 62073897
11 KCNQ2 NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117067974 GRCh37 Chromosome 20, 62045527: 62045527
12 KCNQ2 NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117067974 GRCh38 Chromosome 20, 63414174: 63414174
13 KCNQ2 NM_172107.3(KCNQ2): c.2339A> C (p.Asn780Thr) single nucleotide variant Benign rs1801475 GRCh37 Chromosome 20, 62038277: 62038277
14 KCNQ2 NM_172107.3(KCNQ2): c.2339A> C (p.Asn780Thr) single nucleotide variant Benign rs1801475 GRCh38 Chromosome 20, 63406924: 63406924
15 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777219 GRCh37 Chromosome 20, 62073781: 62073781
16 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777219 GRCh38 Chromosome 20, 63442428: 63442428
17 KCNQ2 NM_172107.3(KCNQ2): c.1348G> A (p.Val450Met) single nucleotide variant Benign/Likely benign rs146492238 GRCh37 Chromosome 20, 62046433: 62046433
18 KCNQ2 NM_172107.3(KCNQ2): c.1348G> A (p.Val450Met) single nucleotide variant Benign/Likely benign rs146492238 GRCh38 Chromosome 20, 63415080: 63415080
19 KCNQ2 NM_172107.3(KCNQ2): c.1503C> G (p.Ala501=) single nucleotide variant Benign rs1801545 GRCh37 Chromosome 20, 62046278: 62046278
20 KCNQ2 NM_172107.3(KCNQ2): c.1503C> G (p.Ala501=) single nucleotide variant Benign rs1801545 GRCh38 Chromosome 20, 63414925: 63414925
21 KCNQ2 NM_172107.3(KCNQ2): c.1719C> T (p.Ala573=) single nucleotide variant Benign/Likely benign rs61737409 GRCh37 Chromosome 20, 62044847: 62044847
22 KCNQ2 NM_172107.3(KCNQ2): c.1719C> T (p.Ala573=) single nucleotide variant Benign/Likely benign rs61737409 GRCh38 Chromosome 20, 63413494: 63413494
23 KCNQ2 NM_172107.3(KCNQ2): c.2031G> A (p.Arg677=) single nucleotide variant Benign/Likely benign rs35647984 GRCh37 Chromosome 20, 62038585: 62038585
24 KCNQ2 NM_172107.3(KCNQ2): c.2031G> A (p.Arg677=) single nucleotide variant Benign/Likely benign rs35647984 GRCh38 Chromosome 20, 63407232: 63407232
25 KCNQ2 NM_172107.3(KCNQ2): c.2235G> A (p.Pro745=) single nucleotide variant Benign rs139587368 GRCh37 Chromosome 20, 62038381: 62038381
26 KCNQ2 NM_172107.3(KCNQ2): c.2235G> A (p.Pro745=) single nucleotide variant Benign rs139587368 GRCh38 Chromosome 20, 63407028: 63407028
27 KCNQ2 NM_172107.3(KCNQ2): c.2238T> A (p.Pro746=) single nucleotide variant Benign rs1801471 GRCh37 Chromosome 20, 62038378: 62038378
28 KCNQ2 NM_172107.3(KCNQ2): c.2238T> A (p.Pro746=) single nucleotide variant Benign rs1801471 GRCh38 Chromosome 20, 63407025: 63407025
29 KCNQ2 NM_172107.3(KCNQ2): c.714C> T (p.Ile238=) single nucleotide variant Benign rs147882199 GRCh37 Chromosome 20, 62073861: 62073861
30 KCNQ2 NM_172107.3(KCNQ2): c.714C> T (p.Ile238=) single nucleotide variant Benign rs147882199 GRCh38 Chromosome 20, 63442508: 63442508
31 KCNQ2 NM_172107.3(KCNQ2): c.912C> T (p.Phe304=) single nucleotide variant Benign rs2297385 GRCh37 Chromosome 20, 62070966: 62070966
32 KCNQ2 NM_172107.3(KCNQ2): c.912C> T (p.Phe304=) single nucleotide variant Benign rs2297385 GRCh38 Chromosome 20, 63439613: 63439613
33 KCNQ2 NM_172107.3(KCNQ2): c.754T> C (p.Leu252=) single nucleotide variant Benign/Likely benign rs370174915 GRCh37 Chromosome 20, 62073821: 62073821
34 KCNQ2 NM_172107.3(KCNQ2): c.754T> C (p.Leu252=) single nucleotide variant Benign/Likely benign rs370174915 GRCh38 Chromosome 20, 63442468: 63442468
35 KCNQ2 NM_172107.3(KCNQ2): c.888C> T (p.Thr296=) single nucleotide variant Benign/Likely benign rs370760854 GRCh37 Chromosome 20, 62070990: 62070990
36 KCNQ2 NM_172107.3(KCNQ2): c.888C> T (p.Thr296=) single nucleotide variant Benign/Likely benign rs370760854 GRCh38 Chromosome 20, 63439637: 63439637
37 KCNQ2 NM_172107.3(KCNQ2): c.1458C> T (p.Phe486=) single nucleotide variant Benign/Likely benign rs141951341 GRCh37 Chromosome 20, 62046323: 62046323
38 KCNQ2 NM_172107.3(KCNQ2): c.1458C> T (p.Phe486=) single nucleotide variant Benign/Likely benign rs141951341 GRCh38 Chromosome 20, 63414970: 63414970
39 KCNQ2 NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=) single nucleotide variant Conflicting interpretations of pathogenicity rs35450031 GRCh37 Chromosome 20, 62044877: 62044877
40 KCNQ2 NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=) single nucleotide variant Conflicting interpretations of pathogenicity rs35450031 GRCh38 Chromosome 20, 63413524: 63413524
41 KCNQ2 NM_172107.3(KCNQ2): c.1827C> T (p.Ala609=) single nucleotide variant Conflicting interpretations of pathogenicity rs369438374 GRCh37 Chromosome 20, 62039826: 62039826
42 KCNQ2 NM_172107.3(KCNQ2): c.1827C> T (p.Ala609=) single nucleotide variant Conflicting interpretations of pathogenicity rs369438374 GRCh38 Chromosome 20, 63408473: 63408473
43 KCNQ2 NM_172107.3(KCNQ2): c.2106G> A (p.Ser702=) single nucleotide variant Benign/Likely benign rs187252584 GRCh37 Chromosome 20, 62038510: 62038510
44 KCNQ2 NM_172107.3(KCNQ2): c.2106G> A (p.Ser702=) single nucleotide variant Benign/Likely benign rs187252584 GRCh38 Chromosome 20, 63407157: 63407157
45 KCNQ2 NM_172107.3(KCNQ2): c.2529C> T (p.Ser843=) single nucleotide variant Benign/Likely benign rs140674819 GRCh37 Chromosome 20, 62038087: 62038087
46 KCNQ2 NM_172107.3(KCNQ2): c.2529C> T (p.Ser843=) single nucleotide variant Benign/Likely benign rs140674819 GRCh38 Chromosome 20, 63406734: 63406734
47 KCNQ2 NM_172107.3(KCNQ2): c.2544G> A (p.Pro848=) single nucleotide variant Benign/Likely benign rs147274045 GRCh37 Chromosome 20, 62038072: 62038072
48 KCNQ2 NM_172107.3(KCNQ2): c.2544G> A (p.Pro848=) single nucleotide variant Benign/Likely benign rs147274045 GRCh38 Chromosome 20, 63406719: 63406719
49 KCNQ2 NM_172107.3(KCNQ2): c.2556G> A (p.Pro852=) single nucleotide variant Benign/Likely benign rs3810472 GRCh37 Chromosome 20, 62038060: 62038060
50 KCNQ2 NM_172107.3(KCNQ2): c.2556G> A (p.Pro852=) single nucleotide variant Benign/Likely benign rs3810472 GRCh38 Chromosome 20, 63406707: 63406707

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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