ECA6
MCID: EPL137
MIFTS: 19

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 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:



External Ids:

OMIM 58 611942

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)

Related Diseases for Epilepsy, Childhood Absence 6

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 30 CACNA1H

Anatomical Context for Epilepsy, Childhood Absence 6

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

42
Brain

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 )
2007
2
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. ( 15888660 )
2005
3
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. ( 15852375 )
2005
4
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. ( 14729682 )
2004
5
Genetic variation of CACNA1H in idiopathic generalized epilepsy. ( 15048902 )
2004
6
Association between genetic variation of CACNA1H and childhood absence epilepsy. ( 12891677 )
2003

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

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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