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 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:



External Ids:

OMIM 57 611942

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)

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:

41
Brain

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
17696120 2007
2
Genetic variation of CACNA1H in idiopathic generalized epilepsy. 8 71
15048902 2004
3
Association between genetic variation of CACNA1H and childhood absence epilepsy. 8 71
12891677 2003
4
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. 71
15852375 2005
5
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. 71
15888660 2005
6
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. 71
14729682 2004
7
Novel insights into Sabino1 and splashed white coat color patterns in horses. 38
29635692 2018
8
Physical anchorage and orientation of equine linkage groups by FISH mapping BAC clones containing microsatellite markers. 38
11419343 2001
9
A primary male autosomal linkage map of the horse genome. 38
9750194 1998
10
Variant surface glycoprotein from Trypanosoma brucei clone YTat 1.1 contains a latent calmodulin-binding domain. 38
1852168 1991

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

Expression for Epilepsy, Childhood Absence 6

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Pathways for Epilepsy, Childhood Absence 6

GO Terms for Epilepsy, Childhood Absence 6

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