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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:absence epilepsy
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Accession:DOID:0070309 term browser browse the term
Definition:An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)
Synonyms:exact_synonym: Absence Seizure Disorder;   Absence Seizure Disorders;   absence epilepsies;   absence seizure;   absence seizures
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209 		JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29788201 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:15329070 PMID:15483648 PMID:16155205 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26843564 PMID:29358611 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy		 CTD
ClinVar		 PMID:7574460 PMID:18414213 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28492532 PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990 		JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176 		JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892 		JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29358611 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213 		JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260 		JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr19:46,761,353...47,695,247 JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A IAGP
ISO		 DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism		 CTD PMID:17196942, PMID:17196942 RGD:1598976 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550 		JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Epilepsy, childhood absence 6
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16754686 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532, PMID:12891677 RGD:1358447 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617 		JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985 		JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 IEP mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 1:192,613,766...192,708,371
Ensembl chr 1:192,613,372...192,709,078 		JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 susceptibility ISO DNA:SNPs
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612269		 OMIM
ClinVar
CTD		 PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532, PMID:16835263 RGD:1601269 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15182313 RGD:9686420 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:15050708 RGD:6480686 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778 		JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425 		JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Npy neuropeptide Y treatment ISO
IDA		 RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
Ensembl chr 4:79,557,854...79,565,097 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978 		JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta IEP protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276 		JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1		 ClinVar PMID:2828157 PMID:9536098 PMID:11198279 PMID:11742254 PMID:12189488 PMID:17576681 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364 		JBrowse link
G Rorb RAR-related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839 		JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:9536098 PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:21714819 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28166811 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30660939 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900 		JBrowse link
childhood electroclinical syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550 		JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253 		JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940
G Lig1 DNA ligase 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238 		JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453 		JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: tonic-clonic convulsions ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114 		JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Tonic-clonic convulsions ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260 		JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar		 PMID:29507423 PMID:29939203 NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591 		JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2b adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2 ClinVar PMID:25741868 NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987 		JBrowse link
G Stard7 StAR-related lipid transfer domain containing 7 ISO OMIM NCBI chr 3:119,698,655...119,727,303
Ensembl chr 3:119,698,652...119,727,347 		JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marchf6 membrane associated ring-CH-type finger 6 ISO OMIM NCBI chr 2:84,533,546...84,608,743
Ensembl chr 2:84,536,669...84,608,712 		JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yeats2 YEATS domain containing 2 ISO OMIM NCBI chr11:84,330,064...84,595,296
Ensembl chr11:84,330,064...84,583,542 		JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar Annotator: match by OMIM:615400		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532 NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940 		JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 ClinVar
OMIM		 PMID:29507423 NCBI chr 1:192,991,584...193,146,403
Ensembl chr 1:193,076,430...193,146,394 		JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7		 ClinVar
OMIM		 PMID:25741868 PMID:29507423 NCBI chr 2:177,836,191...178,057,378
Ensembl chr 2:177,836,202...178,057,157 		JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8		 ClinVar
OMIM		 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:25741868 PMID:28492532 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394 		JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar
OMIM		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665 		JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196 		JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar		 PMID:17159113 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31875159 NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709 		JBrowse link
juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 ISO DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy		 CTD
ClinVar		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724 		JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by OMIM:254770
ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1		 ClinVar
OMIM		 PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28166811 PMID:28370826 PMID:28492532 PMID:29750216 PMID:31875159 NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665 		JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425 		JBrowse link
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 susceptibility ISO OMIM NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694 		JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired epileptiform aphasia
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY		 CTD
ClinVar		 PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Acquired epileptiform aphasia ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260 		JBrowse link
Lennox-Gastaut syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgkd diacylglycerol kinase, delta ISS OMIM:606369 MouseDO NCBI chr 9:94,980,328...95,071,531
Ensembl chr 9:94,980,409...95,069,714 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:24407264 PMID:25741868 PMID:27066572 PMID:28492532 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330 		JBrowse link
G Mapk10 mitogen activated protein kinase 10 ISO ClinVar Annotator: match by synonym: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY ClinVar PMID:16249883 NCBI chr14:8,079,955...8,371,508
Ensembl chr14:8,080,275...8,368,254 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 PMID:21880868 PMID:22647225 PMID:23426270 PMID:23811324 PMID:24122062 PMID:24259288 PMID:24331360 PMID:24508722 PMID:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:30255931 PMID:30373890 PMID:31571979 PMID:31658717 PMID:31669236 PMID:32234506 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:17347258 PMID:18804930 PMID:19589774 PMID:25348405 PMID:26633542 PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865 		JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260 		JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
ClinVar Annotator: match by OMIM:300643		 OMIM
ClinVar		 PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547 		JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp		 OMIM
ClinVar		 PMID:10072049 PMID:27281533 PMID:28492532 PMID:30108545 PMID:31112829 PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      electroclinical syndrome 655
        absence epilepsy 110
          adolescence-adult electroclinical syndrome + 42
          childhood electroclinical syndrome + 75
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            epilepsy 1877
              electroclinical syndrome 655
                absence epilepsy 110
                  adolescence-adult electroclinical syndrome + 42
                  childhood electroclinical syndrome + 75
paths to the root