Epilepsy, Childhood Absence 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epilepsy, Childhood Absence 6

MalaCards integrated aliases for Epilepsy, Childhood Absence 6:

Name: Epilepsy, Childhood Absence 6 ⁵⁷ ⁷⁵ ²⁹ ⁶

Epilepsy, Idiopathic Generalized 6 ⁵⁷ ⁷⁵ ⁶

Epilepsy, Childhood Absence, Susceptibility to, 6 ⁵⁷ ¹³

Eca6 ⁵⁷ ⁷⁵

Epilepsy, Idiopathic Generalized, Susceptibility to, 6 ⁵⁷

Susceptibility to Idiopathic Generalized Epilepsy 6 ⁷⁵

Epilepsy, Childhood Absence, Type 6 ⁴⁰

Eig6 ⁷⁵

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 611942

MedGen ⁴² C2749872 C2677793

MeSH ⁴⁴ D004832 D004829

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Summaries for Epilepsy, Childhood Absence 6

UniProtKB/Swiss-Prot : ⁷⁵ Epilepsy, childhood absence 6: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. Epilepsy, idiopathic generalized 6: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.

MalaCards based summary : Epilepsy, Childhood Absence 6, is also known as epilepsy, idiopathic generalized 6. An important gene associated with Epilepsy, Childhood Absence 6 is CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H). Affiliated tissues include brain.

OMIM : ⁵⁷ Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (600131) and (600669), respectively. (611942)

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Related Diseases for Epilepsy, Childhood Absence 6

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1	Epilepsy, Childhood Absence 2
Epilepsy, Childhood Absence 6	Epilepsy, Childhood Absence 5

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Symptoms & Phenotypes for Epilepsy, Childhood Absence 6

Clinical features from OMIM:

611942

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Drugs & Therapeutics for Epilepsy, Childhood Absence 6

Search Clinical Trials , NIH Clinical Center for Epilepsy, Childhood Absence 6

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Genetic Tests for Epilepsy, Childhood Absence 6

Genetic tests related to Epilepsy, Childhood Absence 6:

#	Genetic test	Affiliating Genes
1	Epilepsy, Childhood Absence 6 ²⁹	CACNA1H

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Anatomical Context for Epilepsy, Childhood Absence 6

MalaCards organs/tissues related to Epilepsy, Childhood Absence 6:

⁴¹

Brain

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Publications for Epilepsy, Childhood Absence 6

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Genes for Epilepsy, Childhood Absence 6

Genes related to Epilepsy, Childhood Absence 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	1004.11	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	12891677 14729682 15888660

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Variations for Epilepsy, Childhood Absence 6

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence 6:

⁷⁵ (show all 14)

#	Symbol	AA change	Variation ID	SNP ID
1	CACNA1H	p.Phe161Leu	VAR_045935	rs119454947
2	CACNA1H	p.Glu282Lys	VAR_045936	rs119454948
3	CACNA1H	p.Cys456Ser	VAR_045938
4	CACNA1H	p.Gly499Ser	VAR_045939	rs560915333
5	CACNA1H	p.Pro648Leu	VAR_045941
6	CACNA1H	p.Arg744Gln	VAR_045944	rs373764821
7	CACNA1H	p.Ala748Val	VAR_045945	rs770371468
8	CACNA1H	p.Gly773Asp	VAR_045946	rs267606697
9	CACNA1H	p.Gly784Ser	VAR_045947	rs779526640
10	CACNA1H	p.Val831Met	VAR_045950	rs119454949
11	CACNA1H	p.Gly848Ser	VAR_045951	rs374272094
12	CACNA1H	p.Asp1463Asn	VAR_045952	rs542245543
13	CACNA1H	p.Pro618Leu	VAR_066986	rs60734921
14	CACNA1H	p.Gly755Asp	VAR_066987	rs142306293

ClinVar genetic disease variations for Epilepsy, Childhood Absence 6:

⁶

(show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CACNA1H	NM_021098.2(CACNA1H): c.483C> A (p.Phe161Leu)	single nucleotide variant	risk factor	rs119454947	GRCh37	Chromosome 16, 1245503: 1245503
2	CACNA1H	NM_021098.2(CACNA1H): c.483C> A (p.Phe161Leu)	single nucleotide variant	risk factor	rs119454947	GRCh38	Chromosome 16, 1195503: 1195503
3	CACNA1H	NM_021098.2(CACNA1H): c.844G> A (p.Glu282Lys)	single nucleotide variant	risk factor	rs119454948	GRCh37	Chromosome 16, 1250296: 1250296
4	CACNA1H	NM_021098.2(CACNA1H): c.844G> A (p.Glu282Lys)	single nucleotide variant	risk factor	rs119454948	GRCh38	Chromosome 16, 1200296: 1200296
5	CACNA1H	NM_021098.2(CACNA1H): c.2491G> A (p.Val831Met)	single nucleotide variant	risk factor	rs119454949	GRCh37	Chromosome 16, 1255153: 1255153
6	CACNA1H	NM_021098.2(CACNA1H): c.2491G> A (p.Val831Met)	single nucleotide variant	risk factor	rs119454949	GRCh38	Chromosome 16, 1205153: 1205153
7	CACNA1H	NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu)	single nucleotide variant	risk factor	rs60734921	GRCh37	Chromosome 16, 1252303: 1252303
8	CACNA1H	NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu)	single nucleotide variant	risk factor	rs60734921	GRCh38	Chromosome 16, 1202303: 1202303
9	CACNA1H	NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 16, 1202365: 1202365
10	CACNA1H	NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 16, 1252365: 1252365
11	CACNA1H	NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=)	single nucleotide variant	Benign	rs60218977	GRCh37	Chromosome 16, 1268257: 1268257
12	CACNA1H	NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=)	single nucleotide variant	Benign	rs60218977	GRCh38	Chromosome 16, 1218257: 1218257
13	CACNA1H	NM_021098.2(CACNA1H): c.489G> C (p.Gln163His)	single nucleotide variant	Benign	rs60593994	GRCh38	Chromosome 16, 1195509: 1195509
14	CACNA1H	NM_021098.2(CACNA1H): c.489G> C (p.Gln163His)	single nucleotide variant	Benign	rs60593994	GRCh37	Chromosome 16, 1245509: 1245509
15	CACNA1H	NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=)	single nucleotide variant	Benign	rs2738893	GRCh38	Chromosome 16, 1219029: 1219029
16	CACNA1H	NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=)	single nucleotide variant	Benign	rs2738893	GRCh37	Chromosome 16, 1269029: 1269029

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Expression for Epilepsy, Childhood Absence 6

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 6.

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Pathways for Epilepsy, Childhood Absence 6

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GO Terms for Epilepsy, Childhood Absence 6

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Sources for Epilepsy, Childhood Absence 6

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

MCID: EPL137 MIFTS: 16	Epilepsy, Childhood Absence 6 Categories: Genetic diseases, Neuronal diseases, Rare diseases
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