MCID: EPL132
MIFTS: 17

Epilepsy, Childhood Absence 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 2

MalaCards integrated aliases for Epilepsy, Childhood Absence 2:

Name: Epilepsy, Childhood Absence 2 53 71 28
Epilepsy, Childhood Absence, Susceptibility to, 2 53 13 69
Eca2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood (6-7 years)
high frequency of absence seizures (several per day)
seizures may remit in adolescence
seizures may persist into adulthood
accounts for 5-15% of childhood epilepsies
genetic heterogeneity (see eca1, )


HPO:

31
epilepsy, childhood absence 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 53 607681
MedGen 39 C1843244
MeSH 41 D004832
UMLS 69 C1843244

Summaries for Epilepsy, Childhood Absence 2

UniProtKB/Swiss-Prot : 71 Epilepsy, childhood absence 2: 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. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood.

MalaCards based summary : Epilepsy, Childhood Absence 2, also known as epilepsy, childhood absence, susceptibility to, 2, is related to generalized epilepsy with febrile seizures plus, type 3, and has symptoms including generalized tonic-clonic seizures, eeg with polyspike wave complexes and absence seizures. An important gene associated with Epilepsy, Childhood Absence 2 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). The drug Fibrinolytic Agents has been mentioned in the context of this disorder.

Description from OMIM: 607681

Related Diseases for Epilepsy, Childhood Absence 2

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 2
Epilepsy, Childhood Absence 6 Epilepsy, Childhood Absence 5

Diseases related to Epilepsy, Childhood Absence 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 3 11.0

Symptoms & Phenotypes for Epilepsy, Childhood Absence 2

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
absence seizures
generalized tonic-clonic seizures (often develop in adolescence)
febrile seizures may occur
eeg shows 3-4-hz spike and multispike slow wave complexes


Clinical features from OMIM:

607681

Human phenotypes related to Epilepsy, Childhood Absence 2:

31
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 HP:0002069
2 eeg with polyspike wave complexes 31 HP:0002392
3 absence seizures 31 HP:0002121
4 febrile seizures 31 HP:0002373
5 eeg with spike-wave complexes (>3.5 hz) 31 HP:0010849

UMLS symptoms related to Epilepsy, Childhood Absence 2:


absence seizures

Drugs & Therapeutics for Epilepsy, Childhood Absence 2

Drugs for Epilepsy, Childhood Absence 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrinolytic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pre-stroke Cognitive Status and Thrombolytic Therapy Completed NCT01713491

Search NIH Clinical Center for Epilepsy, Childhood Absence 2

Genetic Tests for Epilepsy, Childhood Absence 2

Genetic tests related to Epilepsy, Childhood Absence 2:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 2 28 GABRG2

Anatomical Context for Epilepsy, Childhood Absence 2

Publications for Epilepsy, Childhood Absence 2

Variations for Epilepsy, Childhood Absence 2

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence 2:

71
# Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg82Gln VAR_014265 rs121909673

ClinVar genetic disease variations for Epilepsy, Childhood Absence 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic,risk factor rs121909673 GRCh37 Chromosome 5, 161520971: 161520971
2 GABRG2 GABRG2, IVS6DS, T-G, +2 single nucleotide variant Pathogenic,risk factor
3 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh37 Chromosome 5, 161522557: 161522557
4 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh38 Chromosome 5, 162097840: 162097840
5 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh38 Chromosome 5, 162149210: 162149210
6 GABRG2 NC_000005.10: g.(?_162142144)_(162153388_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 162142144: 162153388
7 GABRG2 NM_000816.3(GABRG2): c.1129-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 161580097: 161580097
8 GABRG2 NM_000816.3(GABRG2): c.817G> T (p.Gly273Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 162142211: 162142211

Expression for Epilepsy, Childhood Absence 2

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 2.

Pathways for Epilepsy, Childhood Absence 2

GO Terms for Epilepsy, Childhood Absence 2

Sources for Epilepsy, Childhood Absence 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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