Kcnq2-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KCN010 MIFTS: 6	Kcnq2-Related Disorders Categories: Rare diseases
Genes Variations Related diseases Expand all tables

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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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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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

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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

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Symptoms & Phenotypes for Kcnq2-Related Disorders

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Drugs & Therapeutics for Kcnq2-Related Disorders

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

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Genetic Tests for Kcnq2-Related Disorders

Genetic tests related to Kcnq2-Related Disorders:

#	Genetic test	Affiliating Genes
1	Kcnq2-Related Disorders ³⁰

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Anatomical Context for Kcnq2-Related Disorders

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Publications for Kcnq2-Related Disorders

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Genes for Kcnq2-Related Disorders

Genes related to Kcnq2-Related Disorders (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	419.43	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	LOC105372724	Uncharacterized LOC105372724	RNA Gene	7.81	GeneCards inferred via : Variants (show sections)
3	LOC105372720	Uncharacterized LOC105372720	RNA Gene	7.46	GeneCards inferred via : Variants (show sections)
4	LOC105372721	Uncharacterized LOC105372721	RNA Gene	7.46	GeneCards inferred via : Variants (show sections)

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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.1545G> C (p.Glu515Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs117067974	GRCh37	Chromosome 20, 62045527: 62045527
2	KCNQ2	NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs117067974	GRCh38	Chromosome 20, 63414174: 63414174
3	KCNQ2	NM_172107.3(KCNQ2): c.2339A> C (p.Asn780Thr)	single nucleotide variant	Benign	rs1801475	GRCh37	Chromosome 20, 62038277: 62038277
4	KCNQ2	NM_172107.3(KCNQ2): c.2339A> C (p.Asn780Thr)	single nucleotide variant	Benign	rs1801475	GRCh38	Chromosome 20, 63406924: 63406924
5	KCNQ2	NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587777219	GRCh37	Chromosome 20, 62073781: 62073781
6	KCNQ2	NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587777219	GRCh38	Chromosome 20, 63442428: 63442428
7	KCNQ2	NM_172107.3(KCNQ2): c.1348G> A (p.Val450Met)	single nucleotide variant	Benign/Likely benign	rs146492238	GRCh37	Chromosome 20, 62046433: 62046433
8	KCNQ2	NM_172107.3(KCNQ2): c.1348G> A (p.Val450Met)	single nucleotide variant	Benign/Likely benign	rs146492238	GRCh38	Chromosome 20, 63415080: 63415080
9	KCNQ2	NM_172107.3(KCNQ2): c.1503C> G (p.Ala501=)	single nucleotide variant	Benign	rs1801545	GRCh37	Chromosome 20, 62046278: 62046278
10	KCNQ2	NM_172107.3(KCNQ2): c.1503C> G (p.Ala501=)	single nucleotide variant	Benign	rs1801545	GRCh38	Chromosome 20, 63414925: 63414925
11	KCNQ2	NM_172107.3(KCNQ2): c.1719C> T (p.Ala573=)	single nucleotide variant	Benign/Likely benign	rs61737409	GRCh37	Chromosome 20, 62044847: 62044847
12	KCNQ2	NM_172107.3(KCNQ2): c.1719C> T (p.Ala573=)	single nucleotide variant	Benign/Likely benign	rs61737409	GRCh38	Chromosome 20, 63413494: 63413494
13	KCNQ2	NM_172107.3(KCNQ2): c.2031G> A (p.Arg677=)	single nucleotide variant	Benign/Likely benign	rs35647984	GRCh37	Chromosome 20, 62038585: 62038585
14	KCNQ2	NM_172107.3(KCNQ2): c.2031G> A (p.Arg677=)	single nucleotide variant	Benign/Likely benign	rs35647984	GRCh38	Chromosome 20, 63407232: 63407232
15	KCNQ2	NM_172107.3(KCNQ2): c.2235G> A (p.Pro745=)	single nucleotide variant	Benign	rs139587368	GRCh37	Chromosome 20, 62038381: 62038381
16	KCNQ2	NM_172107.3(KCNQ2): c.2235G> A (p.Pro745=)	single nucleotide variant	Benign	rs139587368	GRCh38	Chromosome 20, 63407028: 63407028
17	KCNQ2	NM_172107.3(KCNQ2): c.2238T> A (p.Pro746=)	single nucleotide variant	Benign	rs1801471	GRCh37	Chromosome 20, 62038378: 62038378
18	KCNQ2	NM_172107.3(KCNQ2): c.2238T> A (p.Pro746=)	single nucleotide variant	Benign	rs1801471	GRCh38	Chromosome 20, 63407025: 63407025
19	KCNQ2	NM_172107.3(KCNQ2): c.714C> T (p.Ile238=)	single nucleotide variant	Benign	rs147882199	GRCh37	Chromosome 20, 62073861: 62073861
20	KCNQ2	NM_172107.3(KCNQ2): c.714C> T (p.Ile238=)	single nucleotide variant	Benign	rs147882199	GRCh38	Chromosome 20, 63442508: 63442508
21	KCNQ2	NM_172107.3(KCNQ2): c.912C> T (p.Phe304=)	single nucleotide variant	Benign	rs2297385	GRCh37	Chromosome 20, 62070966: 62070966
22	KCNQ2	NM_172107.3(KCNQ2): c.912C> T (p.Phe304=)	single nucleotide variant	Benign	rs2297385	GRCh38	Chromosome 20, 63439613: 63439613
23	KCNQ2	NM_172107.3(KCNQ2): c.754T> C (p.Leu252=)	single nucleotide variant	Benign/Likely benign	rs370174915	GRCh37	Chromosome 20, 62073821: 62073821
24	KCNQ2	NM_172107.3(KCNQ2): c.754T> C (p.Leu252=)	single nucleotide variant	Benign/Likely benign	rs370174915	GRCh38	Chromosome 20, 63442468: 63442468
25	KCNQ2	NM_172107.3(KCNQ2): c.888C> T (p.Thr296=)	single nucleotide variant	Benign/Likely benign	rs370760854	GRCh37	Chromosome 20, 62070990: 62070990
26	KCNQ2	NM_172107.3(KCNQ2): c.888C> T (p.Thr296=)	single nucleotide variant	Benign/Likely benign	rs370760854	GRCh38	Chromosome 20, 63439637: 63439637
27	KCNQ2	NM_172107.3(KCNQ2): c.1458C> T (p.Phe486=)	single nucleotide variant	Benign/Likely benign	rs141951341	GRCh37	Chromosome 20, 62046323: 62046323
28	KCNQ2	NM_172107.3(KCNQ2): c.1458C> T (p.Phe486=)	single nucleotide variant	Benign/Likely benign	rs141951341	GRCh38	Chromosome 20, 63414970: 63414970
29	KCNQ2	NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35450031	GRCh37	Chromosome 20, 62044877: 62044877
30	KCNQ2	NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35450031	GRCh38	Chromosome 20, 63413524: 63413524
31	KCNQ2	NM_172107.3(KCNQ2): c.1827C> T (p.Ala609=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369438374	GRCh37	Chromosome 20, 62039826: 62039826
32	KCNQ2	NM_172107.3(KCNQ2): c.1827C> T (p.Ala609=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369438374	GRCh38	Chromosome 20, 63408473: 63408473
33	KCNQ2	NM_172107.3(KCNQ2): c.2106G> A (p.Ser702=)	single nucleotide variant	Benign/Likely benign	rs187252584	GRCh37	Chromosome 20, 62038510: 62038510
34	KCNQ2	NM_172107.3(KCNQ2): c.2106G> A (p.Ser702=)	single nucleotide variant	Benign/Likely benign	rs187252584	GRCh38	Chromosome 20, 63407157: 63407157
35	KCNQ2	NM_172107.3(KCNQ2): c.2529C> T (p.Ser843=)	single nucleotide variant	Benign/Likely benign	rs140674819	GRCh37	Chromosome 20, 62038087: 62038087
36	KCNQ2	NM_172107.3(KCNQ2): c.2529C> T (p.Ser843=)	single nucleotide variant	Benign/Likely benign	rs140674819	GRCh38	Chromosome 20, 63406734: 63406734
37	KCNQ2	NM_172107.3(KCNQ2): c.2544G> A (p.Pro848=)	single nucleotide variant	Benign/Likely benign	rs147274045	GRCh37	Chromosome 20, 62038072: 62038072
38	KCNQ2	NM_172107.3(KCNQ2): c.2544G> A (p.Pro848=)	single nucleotide variant	Benign/Likely benign	rs147274045	GRCh38	Chromosome 20, 63406719: 63406719
39	KCNQ2	NM_172107.3(KCNQ2): c.2556G> A (p.Pro852=)	single nucleotide variant	Benign/Likely benign	rs3810472	GRCh37	Chromosome 20, 62038060: 62038060
40	KCNQ2	NM_172107.3(KCNQ2): c.2556G> A (p.Pro852=)	single nucleotide variant	Benign/Likely benign	rs3810472	GRCh38	Chromosome 20, 63406707: 63406707
41	KCNQ2	NM_172109.2(KCNQ2): c.-42G> T	single nucleotide variant	Likely benign	rs577705653	GRCh37	Chromosome 20, 62103858: 62103858
42	KCNQ2	NM_172109.2(KCNQ2): c.-42G> T	single nucleotide variant	Likely benign	rs577705653	GRCh38	Chromosome 20, 63472505: 63472505
43	KCNQ2	NM_172107.3(KCNQ2): c.-11C> T	single nucleotide variant	Benign/Likely benign	rs182089624	GRCh38	Chromosome 20, 63472474: 63472474
44	KCNQ2	NM_172107.3(KCNQ2): c.-11C> T	single nucleotide variant	Benign/Likely benign	rs182089624	GRCh37	Chromosome 20, 62103827: 62103827
45	KCNQ2	NM_172107.3(KCNQ2): c.81G> A (p.Leu27=)	single nucleotide variant	Benign/Likely benign	rs373897282	GRCh37	Chromosome 20, 62103736: 62103736
46	KCNQ2	NM_172107.3(KCNQ2): c.81G> A (p.Leu27=)	single nucleotide variant	Benign/Likely benign	rs373897282	GRCh38	Chromosome 20, 63472383: 63472383
47	KCNQ2	NM_172107.3(KCNQ2): c.*4G> A	single nucleotide variant	Benign/Likely benign	rs1801508	GRCh37	Chromosome 20, 62037993: 62037993
48	KCNQ2	NM_172107.3(KCNQ2): c.*4G> A	single nucleotide variant	Benign/Likely benign	rs1801508	GRCh38	Chromosome 20, 63406640: 63406640
49	KCNQ2	NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu)	single nucleotide variant	Benign/Likely benign	rs201701585	GRCh38	Chromosome 20, 63407198: 63407198
50	KCNQ2	NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu)	single nucleotide variant	Benign/Likely benign	rs201701585	GRCh37	Chromosome 20, 62038551: 62038551

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Expression for Kcnq2-Related Disorders

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

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Pathways for Kcnq2-Related Disorders

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GO Terms for Kcnq2-Related Disorders

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