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

ECA6 MCID: EPL137 MIFTS: 19	Epilepsy, Childhood Absence 6 (ECA6) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Expand all tables

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Aliases & Classifications for Epilepsy, Childhood Absence 6

MalaCards integrated aliases for Epilepsy, Childhood Absence 6:

Name: Epilepsy, Childhood Absence 6 ⁵⁸ ⁷⁶ ³⁰ ⁶

Epilepsy, Idiopathic Generalized 6 ⁵⁸ ⁷⁶ ⁶

Epilepsy, Childhood Absence, Susceptibility to, 6 ⁵⁸ ¹³

Eca6 ⁵⁸ ⁷⁶

Epilepsy, Idiopathic Generalized, Susceptibility to, 6 ⁵⁸

Susceptibility to Idiopathic Generalized Epilepsy 6 ⁷⁶

Epilepsy, Childhood Absence, Type 6 ⁴¹

Eig6 ⁷⁶

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 611942

MeSH ⁴⁵ D004829 D004832

MedGen ⁴³ C2677793 C2749872

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Summaries for Epilepsy, Childhood Absence 6

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁵⁸ 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 ³⁰	CACNA1H

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Anatomical Context for Epilepsy, Childhood Absence 6

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

⁴²

Brain

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Publications for Epilepsy, Childhood Absence 6

Articles related to Epilepsy, Childhood Absence 6:

#	Title	Authors	Year
1	Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. ( 17696120 )	Heron SE...Zamponi GW	2007
2	Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. ( 15888660 )	Vitko I...Perez-Reyes E	2005
3	Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. ( 15852375 )	Khosravani H...Zamponi GW	2005
4	Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. ( 14729682 )	Khosravani H...Zamponi GW	2004
5	Genetic variation of CACNA1H in idiopathic generalized epilepsy. ( 15048902 )	Heron SE...Scheffer IE	2004
6	Association between genetic variation of CACNA1H and childhood absence epilepsy. ( 12891677 )	Chen Y...Wu X	2003

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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	1004.25	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	12891677 14729682 15888660 (more) 17696120 15048902 15852375

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Variations for Epilepsy, Childhood Absence 6

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

⁷⁶ (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	rs128848497
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 top 50) (show all 62)

#	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.2318G> A (p.Gly773Asp)	single nucleotide variant	no interpretation for the single variant	rs267606697	GRCh37	Chromosome 16, 1254325: 1254325
8	CACNA1H	NM_021098.2(CACNA1H): c.2318G> A (p.Gly773Asp)	single nucleotide variant	no interpretation for the single variant	rs267606697	GRCh38	Chromosome 16, 1204325: 1204325
9	CACNA1H	NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu)	single nucleotide variant	risk factor	rs60734921	GRCh37	Chromosome 16, 1252303: 1252303
10	CACNA1H	NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu)	single nucleotide variant	risk factor	rs60734921	GRCh38	Chromosome 16, 1202303: 1202303
11	CACNA1H	NM_021098.2(CACNA1H): c.2626G> A (p.Ala876Thr)	single nucleotide variant	Benign	rs58173258	GRCh37	Chromosome 16, 1256126: 1256126
12	CACNA1H	NM_021098.2(CACNA1H): c.2626G> A (p.Ala876Thr)	single nucleotide variant	Benign	rs58173258	GRCh38	Chromosome 16, 1206126: 1206126
13	CACNA1H	NM_021098.2(CACNA1H): c.2362C> T (p.Arg788Cys)	single nucleotide variant	Benign	rs3751664	GRCh37	Chromosome 16, 1254369: 1254369
14	CACNA1H	NM_021098.2(CACNA1H): c.2362C> T (p.Arg788Cys)	single nucleotide variant	Benign	rs3751664	GRCh38	Chromosome 16, 1204369: 1204369
15	CACNA1H	NM_021098.2(CACNA1H): c.1919C> T (p.Pro640Leu)	single nucleotide variant	Benign	rs61734410	GRCh37	Chromosome 16, 1252369: 1252369
16	CACNA1H	NM_021098.2(CACNA1H): c.1919C> T (p.Pro640Leu)	single nucleotide variant	Benign	rs61734410	GRCh38	Chromosome 16, 1202369: 1202369
17	CACNA1H	NM_021098.2(CACNA1H): c.3957T> C (p.Asp1319=)	single nucleotide variant	Benign	rs8063574	GRCh37	Chromosome 16, 1260481: 1260481
18	CACNA1H	NM_021098.2(CACNA1H): c.3957T> C (p.Asp1319=)	single nucleotide variant	Benign	rs8063574	GRCh38	Chromosome 16, 1210481: 1210481
19	CACNA1H	NM_021098.2(CACNA1H): c.6230G> A (p.Arg2077His)	single nucleotide variant	Benign	rs1054645	GRCh37	Chromosome 16, 1270162: 1270162
20	CACNA1H	NM_021098.2(CACNA1H): c.6230G> A (p.Arg2077His)	single nucleotide variant	Benign	rs1054645	GRCh38	Chromosome 16, 1220162: 1220162
21	CACNA1H	NM_021098.2(CACNA1H): c.6417T> C (p.Asp2139=)	single nucleotide variant	Benign	rs4247094	GRCh37	Chromosome 16, 1270349: 1270349
22	CACNA1H	NM_021098.2(CACNA1H): c.6417T> C (p.Asp2139=)	single nucleotide variant	Benign	rs4247094	GRCh38	Chromosome 16, 1220349: 1220349
23	CACNA1H	NM_021098.2(CACNA1H): c.830C> T (p.Pro277Leu)	single nucleotide variant	Uncertain significance	rs372848579	GRCh38	Chromosome 16, 1200282: 1200282
24	CACNA1H	NM_021098.2(CACNA1H): c.830C> T (p.Pro277Leu)	single nucleotide variant	Uncertain significance	rs372848579	GRCh37	Chromosome 16, 1250282: 1250282
25	CACNA1H	NM_021098.2(CACNA1H): c.2540G> T (p.Cys847Phe)	single nucleotide variant	Uncertain significance	rs202019417	GRCh37	Chromosome 16, 1255202: 1255202
26	CACNA1H	NM_021098.2(CACNA1H): c.2540G> T (p.Cys847Phe)	single nucleotide variant	Uncertain significance	rs202019417	GRCh38	Chromosome 16, 1205202: 1205202
27	CACNA1H	NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg)	single nucleotide variant	Uncertain significance	rs1555512240	GRCh38	Chromosome 16, 1202365: 1202365
28	CACNA1H	NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg)	single nucleotide variant	Uncertain significance	rs1555512240	GRCh37	Chromosome 16, 1252365: 1252365
29	CACNA1H	NM_021098.2(CACNA1H): c.1702G> A (p.Asp568Asn)	single nucleotide variant	Benign	rs61056448	GRCh38	Chromosome 16, 1202152: 1202152
30	CACNA1H	NM_021098.2(CACNA1H): c.1702G> A (p.Asp568Asn)	single nucleotide variant	Benign	rs61056448	GRCh37	Chromosome 16, 1252152: 1252152
31	CACNA1H	NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=)	single nucleotide variant	Benign	rs60218977	GRCh37	Chromosome 16, 1268257: 1268257
32	CACNA1H	NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=)	single nucleotide variant	Benign	rs60218977	GRCh38	Chromosome 16, 1218257: 1218257
33	CACNA1H	NM_021098.2(CACNA1H): c.6032G> A (p.Arg2011Gln)	single nucleotide variant	Uncertain significance	rs554063452	GRCh37	Chromosome 16, 1269114: 1269114
34	CACNA1H	NM_021098.2(CACNA1H): c.6032G> A (p.Arg2011Gln)	single nucleotide variant	Uncertain significance	rs554063452	GRCh38	Chromosome 16, 1219114: 1219114
35	CACNA1H	NM_021098.2(CACNA1H): c.6625G> C (p.Ala2209Pro)	single nucleotide variant	Uncertain significance	rs59103647	GRCh37	Chromosome 16, 1270557: 1270557
36	CACNA1H	NM_021098.2(CACNA1H): c.6625G> C (p.Ala2209Pro)	single nucleotide variant	Uncertain significance	rs59103647	GRCh38	Chromosome 16, 1220557: 1220557
37	CACNA1H	NM_021098.2(CACNA1H): c.489G> C (p.Gln163His)	single nucleotide variant	Benign	rs60593994	GRCh37	Chromosome 16, 1245509: 1245509
38	CACNA1H	NM_021098.2(CACNA1H): c.489G> C (p.Gln163His)	single nucleotide variant	Benign	rs60593994	GRCh38	Chromosome 16, 1195509: 1195509
39	CACNA1H	NM_021098.2(CACNA1H): c.4534G> A (p.Asp1512Asn)	single nucleotide variant	Uncertain significance	rs200709671	GRCh38	Chromosome 16, 1211773: 1211773
40	CACNA1H	NM_021098.2(CACNA1H): c.4534G> A (p.Asp1512Asn)	single nucleotide variant	Uncertain significance	rs200709671	GRCh37	Chromosome 16, 1261773: 1261773
41	CACNA1H	NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=)	single nucleotide variant	Benign	rs2738893	GRCh37	Chromosome 16, 1269029: 1269029
42	CACNA1H	NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=)	single nucleotide variant	Benign	rs2738893	GRCh38	Chromosome 16, 1219029: 1219029
43	CACNA1H	NM_021098.2(CACNA1H): c.171G> T (p.Glu57Asp)	single nucleotide variant	Uncertain significance	rs539324457	GRCh37	Chromosome 16, 1203908: 1203908
44	CACNA1H	NM_021098.2(CACNA1H): c.171G> T (p.Glu57Asp)	single nucleotide variant	Uncertain significance	rs539324457	GRCh38	Chromosome 16, 1153908: 1153908
45	CACNA1H	NM_021098.2(CACNA1H): c.3589G> A (p.Glu1197Lys)	single nucleotide variant	Uncertain significance	rs751423106	GRCh37	Chromosome 16, 1259257: 1259257
46	CACNA1H	NM_021098.2(CACNA1H): c.3589G> A (p.Glu1197Lys)	single nucleotide variant	Uncertain significance	rs751423106	GRCh38	Chromosome 16, 1209257: 1209257
47	CACNA1H	NM_021098.2(CACNA1H): c.5635G> A (p.Glu1879Lys)	single nucleotide variant	Uncertain significance	rs377103385	GRCh37	Chromosome 16, 1268399: 1268399
48	CACNA1H	NM_021098.2(CACNA1H): c.5635G> A (p.Glu1879Lys)	single nucleotide variant	Uncertain significance	rs377103385	GRCh38	Chromosome 16, 1218399: 1218399
49	CACNA1H	NM_021098.2(CACNA1H): c.1436A> G (p.Tyr479Cys)	single nucleotide variant	Uncertain significance	rs199914911	GRCh37	Chromosome 16, 1251886: 1251886
50	CACNA1H	NM_021098.2(CACNA1H): c.1436A> G (p.Tyr479Cys)	single nucleotide variant	Uncertain significance	rs199914911	GRCh38	Chromosome 16, 1201886: 1201886

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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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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Epilepsy, Childhood Absence 6 (ECA6)

Aliases & Classifications for Epilepsy, Childhood Absence 6

MalaCards integrated aliases for Epilepsy, Childhood Absence 6:

Classifications:

External Ids:

Summaries for Epilepsy, Childhood Absence 6

Related Diseases for Epilepsy, Childhood Absence 6

Diseases in the Childhood Absence Epilepsy family:

Symptoms & Phenotypes for Epilepsy, Childhood Absence 6

Clinical features from OMIM:

Drugs & Therapeutics for Epilepsy, Childhood Absence 6

Genetic Tests for Epilepsy, Childhood Absence 6

Genetic tests related to Epilepsy, Childhood Absence 6:

Anatomical Context for Epilepsy, Childhood Absence 6

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

Publications for Epilepsy, Childhood Absence 6

Articles related to Epilepsy, Childhood Absence 6:

Genes for Epilepsy, Childhood Absence 6

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

Variations for Epilepsy, Childhood Absence 6

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

ClinVar genetic disease variations for Epilepsy, Childhood Absence 6:

Expression for Epilepsy, Childhood Absence 6

Pathways for Epilepsy, Childhood Absence 6

GO Terms for Epilepsy, Childhood Absence 6

Sources for Epilepsy, Childhood Absence 6