ECA6
MCID: EPL137
MIFTS: 22

Epilepsy, Childhood Absence 6 (ECA6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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:



External Ids:

OMIM 56 611942
OMIM Phenotypic Series 56 PS600131 PS600669

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)

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

Symptoms & Phenotypes for Epilepsy, Childhood Absence 6

Clinical features from OMIM:

611942

Drugs & Therapeutics for Epilepsy, Childhood Absence 6

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

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

Anatomical Context for Epilepsy, Childhood Absence 6

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

40
Brain

Publications for Epilepsy, Childhood Absence 6

Articles related to Epilepsy, Childhood Absence 6:

(show all 13)
# Title Authors PMID Year
1
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. 6 56
17696120 2007
2
Genetic variation of CACNA1H in idiopathic generalized epilepsy. 56 6
15048902 2004
3
Association between genetic variation of CACNA1H and childhood absence epilepsy. 56 6
12891677 2003
4
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. 6
15852375 2005
5
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. 6
15888660 2005
6
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. 6
14729682 2004
7
Genome-wide association study for host genetic factors associated with equine herpesvirus type-1 induced myeloencephalopathy. 61
32153055 2020
8
Selection in Australian Thoroughbred horses acts on a locus associated with early two-year old speed. 61
32049967 2020
9
Signatures of selection in the genome of Swedish warmblood horses selected for sport performance. 61
31533613 2019
10
Novel insights into Sabino1 and splashed white coat color patterns in horses. 61
29635692 2018
11
Physical anchorage and orientation of equine linkage groups by FISH mapping BAC clones containing microsatellite markers. 61
11419343 2001
12
A primary male autosomal linkage map of the horse genome. 61
9750194 1998
13
Variant surface glycoprotein from Trypanosoma brucei clone YTat 1.1 contains a latent calmodulin-binding domain. 61
1852168 1991

Variations for Epilepsy, Childhood Absence 6

ClinVar genetic disease variations for Epilepsy, Childhood Absence 6:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.3589G>A (p.Glu1197Lys)SNV Conflicting interpretations of pathogenicity 529611 rs751423106 16:1259257-1259257 16:1209257-1209257
5 CACNA1H NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)SNV Conflicting interpretations of pathogenicity 2705 rs60734921 16:1252303-1252303 16:1202303-1202303
6 CACNA1H NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys)SNV Conflicting interpretations of pathogenicity 529583 rs199914911 16:1251886-1251886 16:1201886-1201886
7 CACNA1H NM_021098.3(CACNA1H):c.3304G>A (p.Asp1102Asn)SNV Uncertain significance 547851 rs1555514961 16:1258162-1258162 16:1208162-1208162
8 CACNA1H NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)SNV Uncertain significance 547866 rs538758039 16:1259093-1259093 16:1209093-1209093
9 CACNA1H NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn)SNV Uncertain significance 583391 rs977157885 16:1257773-1257773 16:1207773-1207773
10 CACNA1H NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)SNV Uncertain significance 568395 rs777217625 16:1270555-1270555 16:1220555-1220555
11 CACNA1H NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)SNV Uncertain significance 580279 rs375325893 16:1254336-1254336 16:1204336-1204336
12 CACNA1H NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)SNV Uncertain significance 567636 rs372601783 16:1267937-1267937 16:1217937-1217937
13 CACNA1H NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)indel Uncertain significance 423060 rs1555513044 16:1254216-1254293 16:1204216-1204293
14 CACNA1H NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg)SNV Uncertain significance 446429 rs1555512240 16:1252365-1252365 16:1202365-1202365
15 CACNA1H NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)SNV Uncertain significance 460158 rs554063452 16:1269114-1269114 16:1219114-1219114
16 CACNA1H NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)SNV Uncertain significance 460172 rs59103647 16:1270557-1270557 16:1220557-1220557
17 CACNA1H NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)SNV Uncertain significance 279725 rs372848579 16:1250282-1250282 16:1200282-1200282
18 CACNA1H NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)SNV Uncertain significance 376824 rs202019417 16:1255202-1255202 16:1205202-1205202
19 CACNA1H NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)SNV Uncertain significance 529580 rs539324457 16:1203908-1203908 16:1153908-1153908
20 CACNA1H NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys)SNV Uncertain significance 529614 rs377103385 16:1268399-1268399 16:1218399-1218399
21 CACNA1H NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn)SNV Uncertain significance 460117 rs200709671 16:1261773-1261773 16:1211773-1211773
22 CACNA1H NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp)SNV Likely benign 242815 rs267606697 16:1254325-1254325 16:1204325-1204325
23 CACNA1H NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)SNV Likely benign 798235 16:1251879-1251879 16:1201879-1201879
24 CACNA1H NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)SNV Benign 460131 rs60593994 16:1245509-1245509 16:1195509-1195509
25 CACNA1H NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)SNV Benign 460196 rs59650398 16:1250446-1250446 16:1200446-1200446
26 CACNA1H NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)SNV Benign 460050 rs61056448 16:1252152-1252152 16:1202152-1202152
27 CACNA1H NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)SNV Benign 460145 rs60218977 16:1268257-1268257 16:1218257-1218257
28 CACNA1H NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)SNV Benign 518260 rs2738893 16:1269029-1269029 16:1219029-1219029
29 CACNA1H NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)SNV Benign 2706 rs58173258 16:1256126-1256126 16:1206126-1206126
30 CACNA1H NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)SNV Benign 96008 rs3751664 16:1254369-1254369 16:1204369-1204369
31 CACNA1H NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)SNV Benign 96005 rs61734410 16:1252369-1252369 16:1202369-1202369
32 CACNA1H NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)SNV Benign 96011 rs8063574 16:1260481-1260481 16:1210481-1210481
33 CACNA1H NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)SNV Benign 96016 rs1054645 16:1270162-1270162 16:1220162-1220162
34 CACNA1H NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)SNV Benign 96018 rs4247094 16:1270349-1270349 16:1220349-1220349

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

Expression for Epilepsy, Childhood Absence 6

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Pathways for Epilepsy, Childhood Absence 6

GO Terms for Epilepsy, Childhood Absence 6

Sources for Epilepsy, Childhood Absence 6

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