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 ⁷⁴ ²⁹ ⁶

Epilepsy, Idiopathic Generalized 6 ⁵⁷ ⁷⁴ ⁶

Epilepsy, Childhood Absence, Susceptibility to, 6 ⁵⁷ ¹³

Eca6 ⁵⁷ ⁷⁴

Epilepsy, Idiopathic Generalized, Susceptibility to, 6 ⁵⁷

Susceptibility to Idiopathic Generalized Epilepsy 6 ⁷⁴

Epilepsy, Childhood Absence, Type 6 ⁴⁰

Eig6 ⁷⁴

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 611942

MeSH ⁴⁴ D004829 D004832

MedGen ⁴² C2677793 C2749872

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Summaries for Epilepsy, Childhood Absence 6

UniProtKB/Swiss-Prot : ⁷⁴ 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 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

Articles related to Epilepsy, Childhood Absence 6:

#	Title	Authors	PMID	Year
1	Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. ⁸ ⁷¹	Heron SE...Zamponi GW	17696120	2007
2	Genetic variation of CACNA1H in idiopathic generalized epilepsy. ⁸ ⁷¹	Heron SE...Scheffer IE	15048902	2004
3	Association between genetic variation of CACNA1H and childhood absence epilepsy. ⁸ ⁷¹	Chen Y...Wu X	12891677	2003
4	Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. ⁷¹	Khosravani H...Zamponi GW	15852375	2005
5	Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. ⁷¹	Vitko I...Perez-Reyes E	15888660	2005
6	Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. ⁷¹	Khosravani H...Zamponi GW	14729682	2004
7	Novel insights into Sabino1 and splashed white coat color patterns in horses. ³⁸	Druml T...Brem G	29635692	2018
8	Physical anchorage and orientation of equine linkage groups by FISH mapping BAC clones containing microsatellite markers. ³⁸	Lindgren G...Binns MM	11419343	2001
9	A primary male autosomal linkage map of the horse genome. ³⁸	Lindgren G...Ellegren H	9750194	1998
10	Variant surface glycoprotein from Trypanosoma brucei clone YTat 1.1 contains a latent calmodulin-binding domain. ³⁸	Ruben L...Chan E	1852168	1991

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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	1004.53	Molecular basis known ⁵⁷ Causative variation ⁷⁴ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	12891677 15852375 15888660 (more) 17696120 14729682 15048902

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Variations for Epilepsy, Childhood Absence 6

ClinVar genetic disease variations for Epilepsy, Childhood Absence 6:

⁶ (show all 31)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	CACNA1H	NM_021098.3(CACNA1H): c.483C> A (p.Phe161Leu)	single nucleotide variant	risk factor	rs119454947	16:1245503-1245503	16:1195503-1195503
2	CACNA1H	NM_021098.3(CACNA1H): c.844G> A (p.Glu282Lys)	single nucleotide variant	risk factor	rs119454948	16:1250296-1250296	16:1200296-1200296
3	CACNA1H	NM_021098.3(CACNA1H): c.2491G> A (p.Val831Met)	single nucleotide variant	risk factor	rs119454949	16:1255153-1255153	16:1205153-1205153
4	CACNA1H	NM_021098.3(CACNA1H): c.1853C> T (p.Pro618Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs60734921	16:1252303-1252303	16:1202303-1202303
5	CACNA1H	NM_021098.3(CACNA1H): c.830C> T (p.Pro277Leu)	single nucleotide variant	Uncertain significance	rs372848579	16:1250282-1250282	16:1200282-1200282
6	CACNA1H	NM_021098.3(CACNA1H): c.3067G> A (p.Asp1023Asn)	single nucleotide variant	Uncertain significance		16:1257773-1257773	16:1207773-1207773
7	CACNA1H	NM_021098.3(CACNA1H): c.6623C> T (p.Ala2208Val)	single nucleotide variant	Uncertain significance		16:1270555-1270555	16:1220555-1220555
8	CACNA1H	NM_021098.3(CACNA1H): c.2329C> T (p.Arg777Cys)	single nucleotide variant	Uncertain significance		16:1254336-1254336	16:1204336-1204336
9	CACNA1H	NM_021098.3(CACNA1H): c.5342C> G (p.Pro1781Arg)	single nucleotide variant	Uncertain significance		16:1267937-1267937	16:1217937-1217937
10	CACNA1H	NM_021098.3(CACNA1H): c.171G> T (p.Glu57Asp)	single nucleotide variant	Uncertain significance	rs539324457	16:1203908-1203908	16:1153908-1153908
11	CACNA1H	NM_021098.3(CACNA1H): c.3589G> A (p.Glu1197Lys)	single nucleotide variant	Uncertain significance	rs751423106	16:1259257-1259257	16:1209257-1209257
12	CACNA1H	NM_021098.3(CACNA1H): c.5635G> A (p.Glu1879Lys)	single nucleotide variant	Uncertain significance	rs377103385	16:1268399-1268399	16:1218399-1218399
13	CACNA1H	NM_021098.3(CACNA1H): c.1436A> G (p.Tyr479Cys)	single nucleotide variant	Uncertain significance	rs199914911	16:1251886-1251886	16:1201886-1201886
14	CACNA1H	NM_021098.3(CACNA1H): c.3304G> A (p.Asp1102Asn)	single nucleotide variant	Uncertain significance	rs1555514961	16:1258162-1258162	16:1208162-1208162
15	CACNA1H	NM_021098.3(CACNA1H): c.3425G> A (p.Arg1142His)	single nucleotide variant	Uncertain significance	rs538758039	16:1259093-1259093	16:1209093-1209093
16	CACNA1H	NM_021098.3(CACNA1H): c.2540G> T (p.Cys847Phe)	single nucleotide variant	Uncertain significance	rs202019417	16:1255202-1255202	16:1205202-1205202
17	CACNA1H	NM_021098.3(CACNA1H): c.1915G> A (p.Gly639Arg)	single nucleotide variant	Uncertain significance	rs1555512240	16:1252365-1252365	16:1202365-1202365
18	CACNA1H	NM_021098.3(CACNA1H): c.6032G> A (p.Arg2011Gln)	single nucleotide variant	Uncertain significance	rs554063452	16:1269114-1269114	16:1219114-1219114
19	CACNA1H	NM_021098.3(CACNA1H): c.6625G> C (p.Ala2209Pro)	single nucleotide variant	Uncertain significance	rs59103647	16:1270557-1270557	16:1220557-1220557
20	CACNA1H	NM_021098.3(CACNA1H): c.4534G> A (p.Asp1512Asn)	single nucleotide variant	Uncertain significance	rs200709671	16:1261773-1261773	16:1211773-1211773
21	CACNA1H	NM_021098.3(CACNA1H): c.5947T> C (p.Leu1983=)	single nucleotide variant	Benign	rs2738893	16:1269029-1269029	16:1219029-1219029
22	CACNA1H	NM_021098.3(CACNA1H): c.489G> C (p.Gln163His)	single nucleotide variant	Benign	rs60593994	16:1245509-1245509	16:1195509-1195509
23	CACNA1H	NM_021098.3(CACNA1H): c.1702G> A (p.Asp568Asn)	single nucleotide variant	Benign	rs61056448	16:1252152-1252152	16:1202152-1202152
24	CACNA1H	NM_021098.3(CACNA1H): c.5493C> T (p.Tyr1831=)	single nucleotide variant	Benign	rs60218977	16:1268257-1268257	16:1218257-1218257
25	CACNA1H	NM_021098.3(CACNA1H): c.2626G> A (p.Ala876Thr)	single nucleotide variant	Benign	rs58173258	16:1256126-1256126	16:1206126-1206126
26	CACNA1H	NM_021098.3(CACNA1H): c.2362C> T (p.Arg788Cys)	single nucleotide variant	Benign	rs3751664	16:1254369-1254369	16:1204369-1204369
27	CACNA1H	NM_021098.3(CACNA1H): c.1919C> T (p.Pro640Leu)	single nucleotide variant	Benign	rs61734410	16:1252369-1252369	16:1202369-1202369
28	CACNA1H	NM_021098.3(CACNA1H): c.3957T> C (p.Asp1319=)	single nucleotide variant	Benign	rs8063574	16:1260481-1260481	16:1210481-1210481
29	CACNA1H	NM_021098.3(CACNA1H): c.6230G> A (p.Arg2077His)	single nucleotide variant	Benign	rs1054645	16:1270162-1270162	16:1220162-1220162
30	CACNA1H	NM_021098.3(CACNA1H): c.6417T> C (p.Asp2139=)	single nucleotide variant	Benign	rs4247094	16:1270349-1270349	16:1220349-1220349
31	CACNA1H	NM_021098.3(CACNA1H): c.2318G> A (p.Gly773Asp)	single nucleotide variant	no interpretation for the single variant	rs267606697	16:1254325-1254325	16:1204325-1204325

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

⁷⁴ (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

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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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ECA6 MCID: EPL137 MIFTS: 22	Epilepsy, Childhood Absence 6 (ECA6) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Expand all tables

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

ClinVar genetic disease variations for Epilepsy, Childhood Absence 6:

UniProtKB/Swiss-Prot 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