RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: myoclonic-atonic epilepsy
Accession: DOID:0060475
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Definition: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)
Synonyms: exact_synonym: EEOC; ELS; GENERALIZED MYOCLONIC-ATONIC SEIZURE; IECEE; MAE; SLC6A1-RELATED CONDITION; SLC6A1-RELATED NEURODEVELOPMENTAL DISORDER; childhood onset epileptic encephalopathy; early life seizures; early onset epileptic encephalopathy; infantile or early childhood epileptic encephalopathy; myoclonic-atonic seizure
narrow_synonym: UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY; infantile epileptic encephalopathy; infantile spasm
primary_id: OMIM:616421
alt_id: DOID:9002731
xref: NCI:C165674 ; NCI:C172100
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:32910250 More...
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar
PMID:9536098 PMID:17576681 PMID:23708187 PMID:24207121 PMID:25418537 PMID:25741868 PMID:25783594 PMID:26467025 PMID:28191890 PMID:28492532 PMID:29358611 PMID:31332282 PMID:31677157 More...
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Dnm1
dynamin 1
ISO
RGD
PMID:27363778
RGD:11557016
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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Fgf12
fibroblast growth factor 12
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 PMID:28506426 PMID:28554332 PMID:29652076 PMID:29699863 More...
NCBI chr11:71,997,151...72,564,757
Ensembl chr11:71,997,099...72,562,607
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Fmr1
fragile X messenger ribonucleoprotein 1
IEP
protein:decreased expression:hippocampus, cytosol (rat)
RGD
PMID:23831253
RGD:11667971
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Iqsec2
IQ motif and Sec7 domain ArfGEF 2
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Pik3ap1
phosphoinositide-3-kinase adaptor protein 1
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:240,090,854...240,245,007
Ensembl chr 1:240,093,065...240,204,828
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Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:32004447
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
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Rbfox1
RNA binding fox-1 homolog 1
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood
ClinVar
PMID:25741868
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30525188 PMID:32551328 PMID:33040525 PMID:33063863 More...
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc6a1
solute carrier family 6 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM CTD ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 PMID:19344873 PMID:22235131 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25741868 PMID:25741909 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31302675 PMID:31332282 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32398021 PMID:32469098 PMID:32581362 PMID:32660967 PMID:33004838 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34120799 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37700749 More...
NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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Srgap2
SLIT-ROBO Rho GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr13:42,745,956...42,967,091
Ensembl chr13:42,745,947...42,967,058
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27779742 PMID:28492532 PMID:29264391 PMID:30185235 PMID:30842647 PMID:32643187 More...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tbc1d24
TBC1 domain family, member 24
ISO
DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)
RGD
PMID:23526554
RGD:11537471
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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