MCID: EPL137
MIFTS: 16

Epilepsy, Childhood Absence 6

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 75 29 6
Epilepsy, Idiopathic Generalized 6 57 75 6
Epilepsy, Childhood Absence, Susceptibility to, 6 57 13
Eca6 57 75
Epilepsy, Idiopathic Generalized, Susceptibility to, 6 57
Susceptibility to Idiopathic Generalized Epilepsy 6 75
Epilepsy, Childhood Absence, Type 6 40
Eig6 75

Classifications:



External Ids:

OMIM 57 611942

Summaries for Epilepsy, Childhood Absence 6

UniProtKB/Swiss-Prot : 75 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

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

Variations for Epilepsy, Childhood Absence 6

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

75 (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
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 16)
# 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.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh37 Chromosome 16, 1252303: 1252303
8 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh38 Chromosome 16, 1202303: 1202303
9 CACNA1H NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 1202365: 1202365
10 CACNA1H NM_021098.2(CACNA1H): c.1915G> A (p.Gly639Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 1252365: 1252365
11 CACNA1H NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=) single nucleotide variant Benign rs60218977 GRCh37 Chromosome 16, 1268257: 1268257
12 CACNA1H NM_021098.2(CACNA1H): c.5493C> T (p.Tyr1831=) single nucleotide variant Benign rs60218977 GRCh38 Chromosome 16, 1218257: 1218257
13 CACNA1H NM_021098.2(CACNA1H): c.489G> C (p.Gln163His) single nucleotide variant Benign rs60593994 GRCh38 Chromosome 16, 1195509: 1195509
14 CACNA1H NM_021098.2(CACNA1H): c.489G> C (p.Gln163His) single nucleotide variant Benign rs60593994 GRCh37 Chromosome 16, 1245509: 1245509
15 CACNA1H NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=) single nucleotide variant Benign rs2738893 GRCh38 Chromosome 16, 1219029: 1219029
16 CACNA1H NM_021098.2(CACNA1H): c.5947T> C (p.Leu1983=) single nucleotide variant Benign rs2738893 GRCh37 Chromosome 16, 1269029: 1269029

Expression for Epilepsy, Childhood Absence 6

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 6.

Pathways for Epilepsy, Childhood Absence 6

GO Terms for Epilepsy, Childhood Absence 6

Sources for Epilepsy, Childhood Absence 6

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