ECA1
MCID: EPL200
MIFTS: 21

Epilepsy, Childhood Absence 1 (ECA1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 1

MalaCards integrated aliases for Epilepsy, Childhood Absence 1:

Name: Epilepsy, Childhood Absence 1 57 29 6
Epilepsy, Childhood Absence, 1 57 13 73
Epilepsy, Childhood Absence, Susceptibility to, 1 57
Eca1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood (6-7 years)
seizures may remit in adolescence
high frequency of absence seizures (several per day)
seizures may persist into adulthood
accounts for 5-15% of childhood epilepsies
genetic heterogeneity (see eca2, )


HPO:

32
epilepsy, childhood absence 1:
Onset and clinical course childhood onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Childhood Absence 1

OMIM : 57 Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA (Crunelli and Leresche, 2002). (600131)

MalaCards based summary : Epilepsy, Childhood Absence 1, also known as epilepsy, childhood absence, 1, is related to childhood absence epilepsy and perrault syndrome 1, and has symptoms including absence seizures An important gene associated with Epilepsy, Childhood Absence 1 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit). Related phenotypes are generalized tonic-clonic seizures and eeg with polyspike wave complexes

Related Diseases for Epilepsy, Childhood Absence 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 childhood absence epilepsy 31.9 ECA1 GABRB3
2 perrault syndrome 1 11.1
3 epilepsy, idiopathic generalized 11.1
4 epilepsy, idiopathic generalized 13 11.1
5 epilepsy, childhood absence 6 11.1
6 epilepsy 10.1

Graphical network of the top 20 diseases related to Epilepsy, Childhood Absence 1:



Diseases related to Epilepsy, Childhood Absence 1

Symptoms & Phenotypes for Epilepsy, Childhood Absence 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
absence seizures
febrile seizures may occur
generalized tonic-clonic seizures (often develop in adolescence)
eeg shows 3-4-hz spike and multispike slow wave complexes


Clinical features from OMIM:

600131

Human phenotypes related to Epilepsy, Childhood Absence 1:

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

UMLS symptoms related to Epilepsy, Childhood Absence 1:


absence seizures

Drugs & Therapeutics for Epilepsy, Childhood Absence 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Childhood Absence 1

Genetic Tests for Epilepsy, Childhood Absence 1

Genetic tests related to Epilepsy, Childhood Absence 1:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 1 29

Anatomical Context for Epilepsy, Childhood Absence 1

Publications for Epilepsy, Childhood Absence 1

Variations for Epilepsy, Childhood Absence 1

ClinVar genetic disease variations for Epilepsy, Childhood Absence 1:

6 (show top 50) (show all 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRB3 NM_000814.5(GABRB3): c.650G> A (p.Arg217His) single nucleotide variant Uncertain significance rs121913125 GRCh37 Chromosome 15, 26825498: 26825498
2 GABRB3 NM_000814.5(GABRB3): c.650G> A (p.Arg217His) single nucleotide variant Uncertain significance rs121913125 GRCh38 Chromosome 15, 26580351: 26580351
3 LOC101927358; MIR6130; RORB; RORB-AS1 9q21.13 deletion deletion Likely pathogenic
4 GABRB3 NM_000814.5(GABRB3): c.-114_*4247del deletion Uncertain significance GRCh38 Chromosome 15, 26543546: 26773076
5 GABRB3 NM_000814.5(GABRB3): c.-114_*4247del deletion Uncertain significance GRCh37 Chromosome 15, 26788693: 27018223
6 GABRB3 NM_000814.5(GABRB3): c.1081-10G> A single nucleotide variant Likely benign rs200137318 GRCh37 Chromosome 15, 26793291: 26793291
7 GABRB3 NM_000814.5(GABRB3): c.1081-10G> A single nucleotide variant Likely benign rs200137318 GRCh38 Chromosome 15, 26548144: 26548144
8 GABRB3 NM_000814.5(GABRB3): c.1005C> T (p.Gly335=) single nucleotide variant Benign rs74907974 GRCh37 Chromosome 15, 26806154: 26806154
9 GABRB3 NM_000814.5(GABRB3): c.1005C> T (p.Gly335=) single nucleotide variant Benign rs74907974 GRCh38 Chromosome 15, 26561007: 26561007
10 GABRB3 NM_000814.5(GABRB3): c.783G> A (p.Ser261=) single nucleotide variant Benign rs76812964 GRCh37 Chromosome 15, 26812780: 26812780
11 GABRB3 NM_000814.5(GABRB3): c.783G> A (p.Ser261=) single nucleotide variant Benign rs76812964 GRCh38 Chromosome 15, 26567633: 26567633
12 GABRB3 NM_000814.5(GABRB3): c.603C> T (p.Thr201=) single nucleotide variant Benign rs75965657 GRCh38 Chromosome 15, 26580398: 26580398
13 GABRB3 NM_000814.5(GABRB3): c.603C> T (p.Thr201=) single nucleotide variant Benign rs75965657 GRCh37 Chromosome 15, 26825545: 26825545
14 GABRB3 NM_000814.5(GABRB3): c.380A> G (p.Lys127Arg) single nucleotide variant Uncertain significance rs1057519201 GRCh37 Chromosome 15, 26866542: 26866542
15 GABRB3 NM_000814.5(GABRB3): c.380A> G (p.Lys127Arg) single nucleotide variant Uncertain significance rs1057519201 GRCh38 Chromosome 15, 26621395: 26621395
16 GABRB3 NM_000814.5(GABRB3): c.1005C> G (p.Gly335=) single nucleotide variant Likely benign rs74907974 GRCh37 Chromosome 15, 26806154: 26806154
17 GABRB3 NM_000814.5(GABRB3): c.1005C> G (p.Gly335=) single nucleotide variant Likely benign rs74907974 GRCh38 Chromosome 15, 26561007: 26561007
18 GABRB3 NM_000814.5(GABRB3): c.1293G> A (p.Arg431=) single nucleotide variant Conflicting interpretations of pathogenicity rs75914945 GRCh37 Chromosome 15, 26793069: 26793069
19 GABRB3 NM_000814.5(GABRB3): c.1293G> A (p.Arg431=) single nucleotide variant Conflicting interpretations of pathogenicity rs75914945 GRCh38 Chromosome 15, 26547922: 26547922
20 GABRB3 NM_000814.5(GABRB3): c.183C> G (p.Val61=) single nucleotide variant Conflicting interpretations of pathogenicity rs778097525 GRCh37 Chromosome 15, 27017606: 27017606
21 GABRB3 NM_000814.5(GABRB3): c.183C> G (p.Val61=) single nucleotide variant Conflicting interpretations of pathogenicity rs778097525 GRCh38 Chromosome 15, 26772459: 26772459
22 GABRB3 NM_000814.5(GABRB3): c.1110A> G (p.Thr370=) single nucleotide variant Likely benign rs200523834 GRCh37 Chromosome 15, 26793252: 26793252
23 GABRB3 NM_000814.5(GABRB3): c.1110A> G (p.Thr370=) single nucleotide variant Likely benign rs200523834 GRCh38 Chromosome 15, 26548105: 26548105
24 GABRB3 NM_000814.5(GABRB3): c.695G> A (p.Arg232Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045045 GRCh37 Chromosome 15, 26812868: 26812868
25 GABRB3 NM_000814.5(GABRB3): c.695G> A (p.Arg232Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045045 GRCh38 Chromosome 15, 26567721: 26567721
26 GABRB3 NM_000814.5(GABRB3): c.504C> A (p.Tyr168Ter) single nucleotide variant Uncertain significance rs1060502665 GRCh38 Chromosome 15, 26583372: 26583372
27 GABRB3 NM_000814.5(GABRB3): c.504C> A (p.Tyr168Ter) single nucleotide variant Uncertain significance rs1060502665 GRCh37 Chromosome 15, 26828519: 26828519
28 GABRB3 NM_000814.5(GABRB3): c.217G> C (p.Asp73His) single nucleotide variant Uncertain significance rs768859258 GRCh38 Chromosome 15, 26772425: 26772425
29 GABRB3 NM_000814.5(GABRB3): c.217G> C (p.Asp73His) single nucleotide variant Uncertain significance rs768859258 GRCh37 Chromosome 15, 27017572: 27017572
30 GABRB3 NM_000814.5(GABRB3): c.-742G> A single nucleotide variant Likely benign rs1060504683 GRCh38 Chromosome 15, 26773704: 26773704
31 GABRB3 NM_000814.5(GABRB3): c.-742G> A single nucleotide variant Likely benign rs1060504683 GRCh37 Chromosome 15, 27018851: 27018851
32 GABRB3 NM_000814.5(GABRB3): c.683-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs759453899 GRCh38 Chromosome 15, 26567740: 26567740
33 GABRB3 NM_000814.5(GABRB3): c.683-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs759453899 GRCh37 Chromosome 15, 26812887: 26812887
34 GABRB3 NM_000814.5(GABRB3): c.1269C> G (p.His423Gln) single nucleotide variant Likely benign rs76962261 GRCh37 Chromosome 15, 26793093: 26793093
35 GABRB3 NM_000814.5(GABRB3): c.1269C> G (p.His423Gln) single nucleotide variant Likely benign rs76962261 GRCh38 Chromosome 15, 26547946: 26547946
36 GABRB3 NM_000814.5(GABRB3): c.487A> G (p.Met163Val) single nucleotide variant Uncertain significance rs1060502666 GRCh37 Chromosome 15, 26828536: 26828536
37 GABRB3 NM_000814.5(GABRB3): c.487A> G (p.Met163Val) single nucleotide variant Uncertain significance rs1060502666 GRCh38 Chromosome 15, 26583389: 26583389
38 GABRB3 NM_000814.5(GABRB3): c.1078C> T (p.Arg360Trp) single nucleotide variant Uncertain significance rs771568810 GRCh38 Chromosome 15, 26560934: 26560934
39 GABRB3 NM_000814.5(GABRB3): c.1078C> T (p.Arg360Trp) single nucleotide variant Uncertain significance rs771568810 GRCh37 Chromosome 15, 26806081: 26806081
40 GABRB3 NC_000015.10: g.(?_26547773)_(26775295_?)del deletion Uncertain significance GRCh38 Chromosome 15, 26547773: 26775295
41 GABRB3 NC_000015.10: g.(?_26547773)_(26775295_?)dup duplication Uncertain significance GRCh38 Chromosome 15, 26547773: 26775295
42 GABRB3 NM_000814.5(GABRB3): c.175C> T (p.Pro59Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 26772467: 26772467
43 GABRB3 NM_000814.5(GABRB3): c.175C> T (p.Pro59Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 27017614: 27017614
44 GABRB3 NM_000814.5(GABRB3): c.156A> T (p.Leu52=) single nucleotide variant Likely benign rs368193507 GRCh38 Chromosome 15, 26772697: 26772697
45 GABRB3 NM_000814.5(GABRB3): c.156A> T (p.Leu52=) single nucleotide variant Likely benign rs368193507 GRCh37 Chromosome 15, 27017844: 27017844
46 GABRB3 NM_000814.5(GABRB3): c.87C> T (p.Asn29=) single nucleotide variant Likely benign rs772263479 GRCh38 Chromosome 15, 26772766: 26772766
47 GABRB3 NM_000814.5(GABRB3): c.87C> T (p.Asn29=) single nucleotide variant Likely benign rs772263479 GRCh37 Chromosome 15, 27017913: 27017913
48 GABRB3 NM_000814.5(GABRB3): c.969G> A (p.Glu323=) single nucleotide variant Likely benign rs77608123 GRCh38 Chromosome 15, 26561043: 26561043
49 GABRB3 NM_000814.5(GABRB3): c.969G> A (p.Glu323=) single nucleotide variant Likely benign rs77608123 GRCh37 Chromosome 15, 26806190: 26806190
50 GABRB3 NM_000814.5(GABRB3): c.1058G> A (p.Arg353His) single nucleotide variant Uncertain significance rs200057173 GRCh38 Chromosome 15, 26560954: 26560954

Expression for Epilepsy, Childhood Absence 1

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Pathways for Epilepsy, Childhood Absence 1

GO Terms for Epilepsy, Childhood Absence 1

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