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 57 75 29 6
Epilepsy, Childhood Absence, Susceptibility to, 2 57 13 73
Eca2 57 75
Epilepsy, Childhood Absence, Type 2 40

Characteristics:

OMIM:

57
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:

32
epilepsy, childhood absence 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 607681
MedGen 42 C1843244
MeSH 44 D004832
UMLS 73 C1843244

Summaries for Epilepsy, Childhood Absence 2

UniProtKB/Swiss-Prot : 75 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 absence seizures An important gene associated with Epilepsy, Childhood Absence 2 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). Related phenotypes are generalized tonic-clonic seizures and absence seizures

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 febrile seizures 32 HP:0002373
4 eeg with polyspike wave complexes 32 HP:0002392
5 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849

UMLS symptoms related to Epilepsy, Childhood Absence 2:


absence seizures

Drugs & Therapeutics for Epilepsy, Childhood Absence 2

Search Clinical Trials , 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 29 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:

75
# Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg82Gln VAR_014265 rs121909673

ClinVar genetic disease variations for Epilepsy, Childhood Absence 2:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121909673 GRCh37 Chromosome 5, 161520971: 161520971
2 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121909673 GRCh38 Chromosome 5, 162093965: 162093965
3 GABRG2 GABRG2, IVS6DS, T-G, +2 single nucleotide variant Pathogenic,risk factor
4 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh37 Chromosome 5, 161522557: 161522557
5 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh38 Chromosome 5, 162095551: 162095551
6 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh38 Chromosome 5, 162149152: 162149152
7 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh37 Chromosome 5, 161576158: 161576158
8 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh38 Chromosome 5, 162149273: 162149273
9 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh37 Chromosome 5, 161576279: 161576279
10 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh38 Chromosome 5, 162153176: 162153176
11 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh37 Chromosome 5, 161580182: 161580182
12 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh38 Chromosome 5, 162153300: 162153300
13 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh37 Chromosome 5, 161580306: 161580306
14 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh38 Chromosome 5, 162097719: 162097719
15 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh37 Chromosome 5, 161524725: 161524725
16 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh38 Chromosome 5, 162097840: 162097840
17 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh37 Chromosome 5, 161524846: 161524846
18 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh38 Chromosome 5, 162142183: 162142183
19 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh37 Chromosome 5, 161569189: 161569189
20 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh37 Chromosome 5, 161580266: 161580266
21 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh38 Chromosome 5, 162153260: 162153260
22 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh37 Chromosome 5, 161520861: 161520861
23 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh38 Chromosome 5, 162093855: 162093855
24 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh37 Chromosome 5, 161576145: 161576145
25 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh38 Chromosome 5, 162149139: 162149139
26 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh37 Chromosome 5, 161580200: 161580200
27 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh38 Chromosome 5, 162153194: 162153194
28 GABRG2 NC_000005.10: g.(?_162101235)_(162155539_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 162101235: 162155539
29 GABRG2 NC_000005.10: g.(?_162101235)_(162155539_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 161528241: 161582545
30 GABRG2 NM_000816.3(GABRG2): c.71C> A (p.Thr24Lys) single nucleotide variant Uncertain significance rs1060501891 GRCh37 Chromosome 5, 161495076: 161495076
31 GABRG2 NM_000816.3(GABRG2): c.71C> A (p.Thr24Lys) single nucleotide variant Uncertain significance rs1060501891 GRCh38 Chromosome 5, 162068070: 162068070
32 GABRG2 NM_000816.3(GABRG2): c.36A> T (p.Ser12=) single nucleotide variant Likely benign rs762058667 GRCh37 Chromosome 5, 161495041: 161495041
33 GABRG2 NM_000816.3(GABRG2): c.36A> T (p.Ser12=) single nucleotide variant Likely benign rs762058667 GRCh38 Chromosome 5, 162068035: 162068035
34 GABRG2 NM_000816.3(GABRG2): c.583C> A (p.His195Asn) single nucleotide variant Uncertain significance rs981863613 GRCh37 Chromosome 5, 161528275: 161528275
35 GABRG2 NM_000816.3(GABRG2): c.583C> A (p.His195Asn) single nucleotide variant Uncertain significance rs981863613 GRCh38 Chromosome 5, 162101269: 162101269
36 GABRG2 NM_000816.3(GABRG2): c.942A> G (p.Thr314=) single nucleotide variant Likely benign rs377502016 GRCh37 Chromosome 5, 161576133: 161576133
37 GABRG2 NM_000816.3(GABRG2): c.942A> G (p.Thr314=) single nucleotide variant Likely benign rs377502016 GRCh38 Chromosome 5, 162149127: 162149127
38 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh37 Chromosome 5, 161576216: 161576216
39 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh38 Chromosome 5, 162149210: 162149210
40 GABRG2 NM_000816.3(GABRG2): c.1171A> G (p.Met391Val) single nucleotide variant Likely benign rs753097258 GRCh37 Chromosome 5, 161580141: 161580141
41 GABRG2 NM_000816.3(GABRG2): c.1171A> G (p.Met391Val) single nucleotide variant Likely benign rs753097258 GRCh38 Chromosome 5, 162153135: 162153135
42 GABRG2 NM_000816.3(GABRG2): c.1007A> G (p.Asp336Gly) single nucleotide variant Uncertain significance rs1060501890 GRCh38 Chromosome 5, 162149192: 162149192
43 GABRG2 NM_000816.3(GABRG2): c.1007A> G (p.Asp336Gly) single nucleotide variant Uncertain significance rs1060501890 GRCh37 Chromosome 5, 161576198: 161576198
44 GABRG2 NM_000816.3(GABRG2): c.1061G> T (p.Gly354Val) single nucleotide variant Uncertain significance rs1060501888 GRCh38 Chromosome 5, 162149246: 162149246
45 GABRG2 NM_000816.3(GABRG2): c.1061G> T (p.Gly354Val) single nucleotide variant Uncertain significance rs1060501888 GRCh37 Chromosome 5, 161576252: 161576252
46 GABRG2 NC_000005.10: g.(?_162142144)_(162153388_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 162142144: 162153388
47 GABRG2 NM_000816.3(GABRG2): c.770-7G> A single nucleotide variant Likely benign rs751069405 GRCh38 Chromosome 5, 162142157: 162142157
48 GABRG2 NM_000816.3(GABRG2): c.770-7G> A single nucleotide variant Likely benign rs751069405 GRCh37 Chromosome 5, 161569163: 161569163
49 GABRG2 NM_000816.3(GABRG2): c.365A> G (p.Tyr122Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161524681: 161524681
50 GABRG2 NM_000816.3(GABRG2): c.365A> G (p.Tyr122Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162097675: 162097675

Expression for Epilepsy, Childhood Absence 2

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Pathways for Epilepsy, Childhood Absence 2

GO Terms for Epilepsy, Childhood Absence 2

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