ECA6
MCID: EPL137
MIFTS: 16

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

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 all 36)
# 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.1915G> A (p.Gly639Arg) single nucleotide variant Uncertain significance rs1555512240 GRCh38 Chromosome 16, 1202365: 1202365
24 CACNA1H NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg) single nucleotide variant Uncertain significance rs1555512240 GRCh37 Chromosome 16, 1252365: 1252365
25 CACNA1H NM_021098.2(CACNA1H): c.1702G> A (p.Asp568Asn) single nucleotide variant Benign rs61056448 GRCh37 Chromosome 16, 1252152: 1252152
26 CACNA1H NM_021098.2(CACNA1H): c.1702G> A (p.Asp568Asn) single nucleotide variant Benign rs61056448 GRCh38 Chromosome 16, 1202152: 1202152
27 CACNA1H NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=) single nucleotide variant Benign rs60218977 GRCh37 Chromosome 16, 1268257: 1268257
28 CACNA1H NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=) single nucleotide variant Benign rs60218977 GRCh38 Chromosome 16, 1218257: 1218257
29 CACNA1H NM_021098.2(CACNA1H): c.489G> C (p.Gln163His) single nucleotide variant Benign rs60593994 GRCh38 Chromosome 16, 1195509: 1195509
30 CACNA1H NM_021098.2(CACNA1H): c.489G> C (p.Gln163His) single nucleotide variant Benign rs60593994 GRCh37 Chromosome 16, 1245509: 1245509
31 CACNA1H NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=) single nucleotide variant Benign rs2738893 GRCh37 Chromosome 16, 1269029: 1269029
32 CACNA1H NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=) single nucleotide variant Benign rs2738893 GRCh38 Chromosome 16, 1219029: 1219029
33 CACNA1H NM_021098.2(CACNA1H): c.3304G> A (p.Asp1102Asn) single nucleotide variant Uncertain significance rs1555514961 GRCh37 Chromosome 16, 1258162: 1258162
34 CACNA1H NM_021098.2(CACNA1H): c.3304G> A (p.Asp1102Asn) single nucleotide variant Uncertain significance rs1555514961 GRCh38 Chromosome 16, 1208162: 1208162
35 CACNA1H NM_021098.2(CACNA1H): c.3425G> A (p.Arg1142His) single nucleotide variant Uncertain significance rs538758039 GRCh38 Chromosome 16, 1209093: 1209093
36 CACNA1H NM_021098.2(CACNA1H): c.3425G> A (p.Arg1142His) single nucleotide variant Uncertain significance rs538758039 GRCh37 Chromosome 16, 1259093: 1259093

Expression for Epilepsy, Childhood Absence 6

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GO Terms for Epilepsy, Childhood Absence 6

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