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 ⁵⁶ ⁷³ ²⁹ ⁶

Epilepsy, Idiopathic Generalized 6 ⁵⁶ ⁷³ ⁶

Epilepsy, Childhood Absence, Susceptibility to, 6 ⁵⁶ ¹³

Eca6 ⁵⁶ ⁷³

Epilepsy, Idiopathic Generalized, Susceptibility to, 6 ⁵⁶

Susceptibility to Idiopathic Generalized Epilepsy 6 ⁷³

Epilepsy, Childhood Absence, Type 6 ³⁹

Eig6 ⁷³

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 611942

OMIM Phenotypic Series ⁵⁶ PS600131 PS600669

MeSH ⁴³ D004829 D004832

MedGen ⁴¹ C2677793 C2749872

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Summaries for Epilepsy, Childhood Absence 6

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁵⁶ 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:

⁴⁰

Brain

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Publications for Epilepsy, Childhood Absence 6

Articles related to Epilepsy, Childhood Absence 6:

(show all 11)

#	Title	Authors	PMID	Year
1	Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. ⁵⁶ ⁶	Heron SE...Zamponi GW	17696120	2007
2	Genetic variation of CACNA1H in idiopathic generalized epilepsy. ⁵⁶ ⁶	Heron SE...Scheffer IE	15048902	2004
3	Association between genetic variation of CACNA1H and childhood absence epilepsy. ⁵⁶ ⁶	Chen Y...Wu X	12891677	2003
4	Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. ⁶	Vitko I...Perez-Reyes E	15888660	2005
5	Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. ⁶	Khosravani H...Zamponi GW	15852375	2005
6	Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. ⁶	Khosravani H...Zamponi GW	14729682	2004
7	Signatures of selection in the genome of Swedish warmblood horses selected for sport performance. ⁶¹	Ablondi M...Mikko S	31533613	2019
8	Novel insights into Sabino1 and splashed white coat color patterns in horses. ⁶¹	Druml T...Brem G	29635692	2018
9	Physical anchorage and orientation of equine linkage groups by FISH mapping BAC clones containing microsatellite markers. ⁶¹	Lindgren G...Binns MM	11419343	2001
10	A primary male autosomal linkage map of the horse genome. ⁶¹	Lindgren G...Ellegren H	9750194	1998
11	Variant surface glycoprotein from Trypanosoma brucei clone YTat 1.1 contains a latent calmodulin-binding domain. ⁶¹	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	994.5	Molecular basis known ⁵⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	15888660 15852375 15048902 (more) 14729682 12891677 17696120

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Variations for Epilepsy, Childhood Absence 6

ClinVar genetic disease variations for Epilepsy, Childhood Absence 6:

⁶ (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CACNA1H	NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu)	SNV	risk factor	2701	rs119454947	16:1245503-1245503	16:1195503-1195503
2	CACNA1H	NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys)	SNV	risk factor	2702	rs119454948	16:1250296-1250296	16:1200296-1200296
3	CACNA1H	NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met)	SNV	risk factor	2703	rs119454949	16:1255153-1255153	16:1205153-1205153
4	CACNA1H	NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)	SNV	Conflicting interpretations of pathogenicity	2705	rs60734921	16:1252303-1252303	16:1202303-1202303
5	CACNA1H	NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)	SNV	Conflicting interpretations of pathogenicity	529611	rs751423106	16:1259257-1259257	16:1209257-1209257
6	CACNA1H	NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys)	SNV	Uncertain significance	529614	rs377103385	16:1268399-1268399	16:1218399-1218399
7	CACNA1H	NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys)	SNV	Uncertain significance	529583	rs199914911	16:1251886-1251886	16:1201886-1201886
8	CACNA1H	NM_021098.3(CACNA1H):c.3304G>A (p.Asp1102Asn)	SNV	Uncertain significance	547851	rs1555514961	16:1258162-1258162	16:1208162-1208162
9	CACNA1H	NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)	SNV	Uncertain significance	547866	rs538758039	16:1259093-1259093	16:1209093-1209093
10	CACNA1H	NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn)	SNV	Uncertain significance	583391	rs977157885	16:1257773-1257773	16:1207773-1207773
11	CACNA1H	NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)	SNV	Uncertain significance	568395	rs777217625	16:1270555-1270555	16:1220555-1220555
12	CACNA1H	NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)	SNV	Uncertain significance	580279	rs375325893	16:1254336-1254336	16:1204336-1204336
13	CACNA1H	NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)	SNV	Uncertain significance	567636	rs372601783	16:1267937-1267937	16:1217937-1217937
14	CACNA1H	NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn)	SNV	Uncertain significance	460117	rs200709671	16:1261773-1261773	16:1211773-1211773
15	CACNA1H	NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)	SNV	Uncertain significance	529580	rs539324457	16:1203908-1203908	16:1153908-1153908
16	CACNA1H	NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)	SNV	Uncertain significance	279725	rs372848579	16:1250282-1250282	16:1200282-1200282
17	CACNA1H	NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)	SNV	Uncertain significance	376824	rs202019417	16:1255202-1255202	16:1205202-1205202
18	CACNA1H	NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg)	SNV	Uncertain significance	446429	rs1555512240	16:1252365-1252365	16:1202365-1202365
19	CACNA1H	NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)	SNV	Uncertain significance	460158	rs554063452	16:1269114-1269114	16:1219114-1219114
20	CACNA1H	NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)	SNV	Uncertain significance	460172	rs59103647	16:1270557-1270557	16:1220557-1220557
21	CACNA1H	NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp)	SNV	Likely benign	242815	rs267606697	16:1254325-1254325	16:1204325-1204325
22	CACNA1H	NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)	SNV	Benign	2706	rs58173258	16:1256126-1256126	16:1206126-1206126
23	CACNA1H	NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)	SNV	Benign	96008	rs3751664	16:1254369-1254369	16:1204369-1204369
24	CACNA1H	NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)	SNV	Benign	96005	rs61734410	16:1252369-1252369	16:1202369-1202369
25	CACNA1H	NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)	SNV	Benign	96011	rs8063574	16:1260481-1260481	16:1210481-1210481
26	CACNA1H	NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)	SNV	Benign	96016	rs1054645	16:1270162-1270162	16:1220162-1220162
27	CACNA1H	NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)	SNV	Benign	96018	rs4247094	16:1270349-1270349	16:1220349-1220349
28	CACNA1H	NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)	SNV	Benign	460131	rs60593994	16:1245509-1245509	16:1195509-1195509
29	CACNA1H	NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)	SNV	Benign	460196	rs59650398	16:1250446-1250446	16:1200446-1200446
30	CACNA1H	NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)	SNV	Benign	460050	rs61056448	16:1252152-1252152	16:1202152-1202152
31	CACNA1H	NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)	SNV	Benign	460145	rs60218977	16:1268257-1268257	16:1218257-1218257
32	CACNA1H	NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)	SNV	Benign	518260	rs2738893	16:1269029-1269029	16:1219029-1219029

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

⁷³ (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: 21	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