ECA1
MCID: EPL200
MIFTS: 30

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 70
Epilepsy, Childhood Absence, Susceptibility to, 1 57
Eca1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
epilepsy, childhood absence 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM® 57 600131
OMIM Phenotypic Series 57 PS600131
MedGen 41 C1838604
UMLS 70 C1838604

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) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Childhood Absence 1, also known as epilepsy, childhood absence, 1, is related to epilepsy, idiopathic generalized and childhood absence epilepsy, and has symptoms including absence seizures An important gene associated with Epilepsy, Childhood Absence 1 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3). Affiliated tissues include eye, and related phenotypes are eeg with spike-wave complexes (>3.5 hz) 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 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 epilepsy, idiopathic generalized 29.3 RORB-AS1 RORB MIR6130 LOC101927358 GABRB3
2 childhood absence epilepsy 29.2 RORB-AS1 RORB MIR6130 LOC101927358 GABRB3 ECA1
3 epilepsy, idiopathic generalized 13 10.9
4 epilepsy, childhood absence 6 10.9

Symptoms & Phenotypes for Epilepsy, Childhood Absence 1

Human phenotypes related to Epilepsy, Childhood Absence 1:

31
# Description HPO Frequency HPO Source Accession
1 eeg with spike-wave complexes (>3.5 hz) 31 HP:0010849
2 eeg with polyspike wave complexes 31 HP:0002392
3 bilateral tonic-clonic seizure 31 HP:0002069
4 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
5 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Epilepsy, Childhood Absence 1:

40
Eye

Publications for Epilepsy, Childhood Absence 1

Articles related to Epilepsy, Childhood Absence 1:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. 61 57
10995568 2000
2
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. 61 57
10510981 1999
3
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. 6
29961870 2018
4
A mutation in GABRB3 associated with Dravet syndrome. 6
28544625 2017
5
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 6
28053010 2017
6
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. 6
25950944 2015
7
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
8
De novo mutations in epileptic encephalopathies. 6
23934111 2013
9
Enhanced tonic GABAA inhibition in typical absence epilepsy. 57
19966779 2009
10
Genetic influences on myoclonic and absence seizures. 57
14663045 2003
11
Childhood absence epilepsy: genes, channels, neurons and networks. 57
11988776 2002
12
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 57
11326275 2001
13
Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. 6
11198279 2001
14
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. 57
9758624 1998
15
Concordance of clinical forms of epilepsy in families with several affected members. Italian League Against Epilepsy Genetic Collaborative Group. 57
8404731 1993
16
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 57
2502382 1989
17
Lipid-protein interactions for ECA1 an N-ANTH domain protein involved in stress signaling in plants. 61
32416105 2020
18
Genetic investigation of equine recurrent uveitis in Appaloosa horses. 61
31793009 2020
19
Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds. 61
31640551 2019
20
Signatures of selection in the genome of Swedish warmblood horses selected for sport performance. 61
31533613 2019
21
Beneficial Effects of Ethyl-Cyanoacrylate Coating Against Candida Albicans Biofilm Formation. 61
31166390 2019
22
Identification and validation of genetic variants predictive of gait in standardbred horses. 61
31136578 2019
23
Genome-Wide Association Studies Based on Equine Joint Angle Measurements Reveal New QTL Affecting the Conformation of Horses. 61
31091839 2019
24
Identification of loci affecting sexually dimorphic patterns for height and recurrent laryngeal neuropathy risk in American Belgian Draft Horses. 61
30265593 2018
25
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses. 61
30058072 2018
26
Detecting genetic regions associated with height in the native ponies of the British Isles by using high density SNP genotyping. 61
30184439 2018
27
MIZ1 regulates ECA1 to generate a slow, long-distance phloem-transmitted Ca2+ signal essential for root water tracking in Arabidopsis. 61
30012618 2018
28
Genetic contributions to precocity traits in racing Thoroughbreds. 61
29230835 2018
29
Differences between horse selection based on two forms of osteochondrosis in fetlock. 61
29524049 2018
30
Draft Genome Sequences of Enterohemorrhagic and Enteropathogenic Escherichia coli Strains Isolated from Alpacas in Peru. 61
29301877 2018
31
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses. 61
28655738 2017
32
Differential Roles for Six P-Type Calcium ATPases in Sustaining Intracellular Ca2+ Homeostasis, Asexual Cycle and Environmental Fitness of Beauveria bassiana. 61
28469160 2017
33
Phosphatidic acid binding proteins display differential binding as a function of membrane curvature stress and chemical properties. 61
27480805 2016
34
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. 61
27329127 2016
35
Selection signatures in Shetland ponies. 61
26857482 2016
36
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. 61
26452345 2015
37
Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. 61
24467435 2014
38
Same same but different: sperm-activating EC1 and ECA1 gametogenesis-related family proteins. 61
24646251 2014
39
Equine developmental orthopaedic diseases--a genome-wide association study of first phalanx plantar osteochondral fragments in Standardbred trotters. 61
23742657 2013
40
The calcium transporter Pmc1 provides Ca2+ tolerance and influences the progression of murine cryptococcal infection. 61
23895559 2013
41
Analysis of copy number variants by three detection algorithms and their association with body size in horses. 61
23865711 2013
42
A genome-wide association study for quantitative trait loci of show-jumping in Hanoverian warmblood horses. 61
22497689 2012
43
Nucleolar organizer regions (NORs) distribution and behavior in spermatozoa and meiotic cells of the horse (Equus caballus). 61
22056014 2012
44
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. 61
20353955 2010
45
Whole-genome scan identifies quantitative trait loci for chronic pastern dermatitis in German draft horses. 61
20039044 2010
46
Differential expression of candidate salt-tolerance genes in the halophyte Helianthus paradoxus and its glycophyte progenitors H. annuus and H. petiolaris (Asteraceae). 61
21622304 2009
47
HvPG1 and ECA1: two genes activated transcriptionally in the transition of barley microspores from the gametophytic to the embryogenic pathway. 61
19112566 2009
48
A tomato ER-type Ca2+-ATPase, LCA1, has a low thapsigargin-sensitivity and can transport manganese. 61
19056336 2009
49
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). 61
18660533 2008
50
Eca1, a sarcoplasmic/endoplasmic reticulum Ca2+-ATPase, is involved in stress tolerance and virulence in Cryptococcus neoformans. 61
17502401 2007

Variations for Epilepsy, Childhood Absence 1

ClinVar genetic disease variations for Epilepsy, Childhood Absence 1:

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GABRB3 NC_000015.10:g.(?_26547773)_(26775295_?)del Deletion Pathogenic 469568 GRCh37:
GRCh38: 15:26547773-26775295
2 GABRB3 NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) SNV Pathogenic 374687 rs1057519201 GRCh37: 15:26866542-26866542
GRCh38: 15:26621395-26621395
3 GABRB3 NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) SNV Pathogenic 393256 rs797045045 GRCh37: 15:26812868-26812868
GRCh38: 15:26567721-26567721
4 GABRB3 NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) SNV Pathogenic 839250 GRCh37: 15:26806254-26806254
GRCh38: 15:26561107-26561107
5 GABRB3 NM_000814.6(GABRB3):c.172+1del Deletion Pathogenic 969517 GRCh37: 15:27017827-27017827
GRCh38: 15:26772680-26772680
6 GABRB3 NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) SNV Pathogenic 488884 rs1555368345 GRCh37: 15:26825568-26825568
GRCh38: 15:26580421-26580421
7 GABRB3 NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) SNV Pathogenic 948660 GRCh37: 15:26812806-26812806
GRCh38: 15:26567659-26567659
8 GABRB3 NM_000814.6(GABRB3):c.1054del (p.Asp352fs) Deletion Pathogenic 943697 GRCh37: 15:26806105-26806105
GRCh38: 15:26560958-26560958
9 GABRB3 NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) Deletion Pathogenic 942245 GRCh37: 15:26866517-26866517
GRCh38: 15:26621370-26621370
10 GABRB3 NC_000015.10:g.(?_26547773)_(26583434_?)del Deletion Pathogenic 833422 GRCh37: 15:26792920-26828581
GRCh38:
11 overlap with 3 genes NC_000015.10:g.(?_25862297)_(26937328_?)del Deletion Pathogenic 833345 GRCh37: 15:26107444-27182475
GRCh38:
12 GABRB3 NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) SNV Pathogenic 653036 rs942355738 GRCh37: 15:26866591-26866591
GRCh38: 15:26621444-26621444
13 GABRB3 NC_000015.10:g.(?_26567561)_(26629023_?)del Deletion Pathogenic 537298 GRCh37: 15:26812708-26874170
GRCh38: 15:26567561-26629023
14 GABRB3 NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) SNV Pathogenic 409956 rs1060502665 GRCh37: 15:26828519-26828519
GRCh38: 15:26583372-26583372
15 RORB , RORB-AS1 , MIR6130 , LOC101927358 9q21.13 deletion Deletion Likely pathogenic 223147 GRCh37:
GRCh38:
16 GABRB3 NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) SNV Likely pathogenic 582255 rs1567106381 GRCh37: 15:26806264-26806264
GRCh38: 15:26561117-26561117
17 GABRB3 NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu) SNV Likely pathogenic 837360 GRCh37: 15:26806257-26806257
GRCh38: 15:26561110-26561110
18 GABRB3 NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) SNV Likely pathogenic 945555 GRCh37: 15:26806242-26806242
GRCh38: 15:26561095-26561095
19 GABRB3 NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) SNV Likely pathogenic 856080 GRCh37: 15:26828556-26828556
GRCh38: 15:26583409-26583409
20 GABRB3 NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter) SNV Uncertain significance 848888 GRCh37: 15:26793122-26793122
GRCh38: 15:26547975-26547975
21 GABRB3 NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn) SNV Uncertain significance 841349 GRCh37: 15:26825559-26825559
GRCh38: 15:26580412-26580412
22 GABRB3 NM_000814.6(GABRB3):c.640G>A (p.Val214Met) SNV Uncertain significance 581500 rs761554616 GRCh37: 15:26825508-26825508
GRCh38: 15:26580361-26580361
23 GABRB3 NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly) SNV Uncertain significance 665193 rs1595363628 GRCh37: 15:27017605-27017605
GRCh38: 15:26772458-26772458
24 GABRB3 NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) SNV Uncertain significance 420927 rs1064794797 GRCh37: 15:27017550-27017550
GRCh38: 15:26772403-26772403
25 GABRB3 NC_000015.9:g.(?_27017808)_(27020442_?)dup Duplication Uncertain significance 654110 GRCh37: 15:27017808-27020442
GRCh38: 15:26772661-26775295
26 GABRB3 NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) SNV Uncertain significance 653022 rs763319754 GRCh37: 15:26806107-26806107
GRCh38: 15:26560960-26560960
27 GABRB3 NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val) SNV Uncertain significance 652737 rs1352939866 GRCh37: 15:26793209-26793209
GRCh38: 15:26548062-26548062
28 GABRB3 NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg) SNV Uncertain significance 640537 rs1595489812 GRCh37: 15:26866494-26866494
GRCh38: 15:26621347-26621347
29 GABRB3 NC_000015.9:g.(?_26792920)_(27018162_?)dup Duplication Uncertain significance 583530 GRCh37: 15:26792920-27018162
GRCh38: 15:26547773-26773015
30 GABRB3 NM_000814.6(GABRB3):c.758C>A (p.Pro253His) SNV Uncertain significance 582321 rs1064796514 GRCh37: 15:26812805-26812805
GRCh38: 15:26567658-26567658
31 GABRB3 NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) SNV Uncertain significance 537289 rs761102474 GRCh37: 15:26806138-26806138
GRCh38: 15:26560991-26560991
32 GABRB3 NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu) SNV Uncertain significance 537288 rs1555368630 GRCh37: 15:26828517-26828517
GRCh38: 15:26583370-26583370
33 GABRB3 NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu) SNV Uncertain significance 537287 rs1555401426 GRCh37: 15:26806249-26806249
GRCh38: 15:26561102-26561102
34 GABRB3 NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser) SNV Uncertain significance 537286 rs1555401411 GRCh37: 15:26806164-26806164
GRCh38: 15:26561017-26561017
35 GABRB3 NC_000015.9:g.(?_26792920)_(27020442_?)dup Duplication Uncertain significance 469569 GRCh37:
GRCh38: 15:26547773-26775295
36 GABRB3 NM_000814.6(GABRB3):c.418A>G (p.Met140Val) SNV Uncertain significance 469574 rs1555371848 GRCh37: 15:26866504-26866504
GRCh38: 15:26621357-26621357
37 GABRB3 NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys) SNV Uncertain significance 1052030 GRCh37: 15:26828501-26828501
GRCh38: 15:26583354-26583354
38 GABRB3 NM_000814.6(GABRB3):c.267A>G (p.Gln89=) SNV Uncertain significance 1057777 GRCh37: 15:26866655-26866655
GRCh38: 15:26621508-26621508
39 GABRB3 NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) Microsatellite Uncertain significance 1053404 GRCh37: 15:26825477-26825479
GRCh38: 15:26580330-26580332
40 GABRB3 NM_000814.6(GABRB3):c.487A>G (p.Met163Val) SNV Uncertain significance 409957 rs1060502666 GRCh37: 15:26828536-26828536
GRCh38: 15:26583389-26583389
41 GABRB3 NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp) SNV Uncertain significance 579267 rs1567090411 GRCh37: 15:26793214-26793214
GRCh38: 15:26548067-26548067
42 GABRB3 NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu) SNV Uncertain significance 572302 rs1567113254 GRCh37: 15:26812862-26812862
GRCh38: 15:26567715-26567715
43 GABRB3 NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro) SNV Uncertain significance 567268 rs1365439059 GRCh37: 15:26806120-26806120
GRCh38: 15:26560973-26560973
44 GABRB3 NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) SNV Uncertain significance 548619 rs1555401442 GRCh37: 15:26806318-26806318
GRCh38: 15:26561171-26561171
45 GABRB3 NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp) SNV Uncertain significance 537292 rs144496462 GRCh37: 15:26812851-26812851
GRCh38: 15:26567704-26567704
46 GABRB3 NM_000814.6(GABRB3):c.417C>T (p.Arg139=) SNV Uncertain significance 537291 rs933729675 GRCh37: 15:26866505-26866505
GRCh38: 15:26621358-26621358
47 GABRB3 NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser) SNV Uncertain significance 469573 rs1555383878 GRCh37: 15:27017614-27017614
GRCh38: 15:26772467-26772467
48 GABRB3 NM_000814.6(GABRB3):c.682_682+3dup Duplication Uncertain significance 469575 rs1254941219 GRCh37: 15:26825462-26825463
GRCh38: 15:26580315-26580316
49 GABRB3 NM_000814.5(GABRB3):c.-114_*4247del Deletion Uncertain significance 238187 GRCh37: 15:26788693-27018223
GRCh38: 15:26543546-26773076
50 GABRB3 NM_000814.6(GABRB3):c.479C>T (p.Ala160Val) SNV Uncertain significance 938856 GRCh37: 15:26828544-26828544
GRCh38: 15:26583397-26583397

Expression for Epilepsy, Childhood Absence 1

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 1.

Pathways for Epilepsy, Childhood Absence 1

GO Terms for Epilepsy, Childhood Absence 1

Sources for Epilepsy, Childhood Absence 1

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61 PubMed
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