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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:benign neonatal seizures
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Accession:DOID:14264 term browser browse the term
Definition:A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)
Synonyms:exact_synonym: Benign Neonatal Convulsion;   Benign Neonatal Convulsions;   Benign Neonatal Epilepsies;   Benign Neonatal Non Familial Convulsions;   Benign Neonatal-Infantile Epilepsies;   Benign Neonatal-Infantile Epilepsy;   NEONATAL SEIZURES;   benign neonatal epilepsy;   benign neonatal nonfamilial epilepsy;   non familial benign neonatal epilepsy
 primary_id: MESH:D020936
 alt_id: RDO:0000537
 xref: NCI:C84593;   OMIM:PS121200;   ORDO:1949
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
benign neonatal seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16491085, PMID:20554659, PMID:21733724, PMID:25741868, PMID:28492532 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19380078, PMID:26910900 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
ISS
ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar Annotator: match by term: Benign familial neonatal seizures
OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar
MouseDO
PMID:16235065, PMID:17765802, PMID:18625963, PMID:19344764, PMID:21703448, PMID:23596459, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:14635118, PMID:16919951, PMID:20185557, PMID:21357833, PMID:21550804, PMID:21880868, PMID:25741868, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar PMID:11738931, PMID:18414213, PMID:19702560, PMID:20956790, PMID:22029951, PMID:22581653, PMID:22591750, PMID:23550958, PMID:23849776, PMID:24579881, PMID:25741868, PMID:25818041, PMID:26467025, PMID:26645390, PMID:27159988, PMID:27328862, PMID:28065826, PMID:28087622, PMID:28379373, PMID:28492532, PMID:32860008 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771, PMID:26595808 NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
JBrowse link
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9579893, PMID:11179027, PMID:12953268, PMID:22101681, PMID:22120146, PMID:22131361, PMID:22209761, PMID:22243967, PMID:22399141, PMID:22623405, PMID:22744660, PMID:22782515, PMID:22832103, PMID:22845787, PMID:22870186, PMID:22875091, PMID:22877996, PMID:22985072, PMID:23077016, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24609974, PMID:24661410, PMID:24755245, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
DNA: missense mutation: exon 16 : p.N1001K
OMIM
ClinVar
PMID:11738931, PMID:18414213, PMID:19702560, PMID:20956790, PMID:22029951, PMID:22581653, PMID:22591750, PMID:23550958, PMID:23849776, PMID:24579881, PMID:25741868, PMID:25818041, PMID:26467025, PMID:26645390, PMID:27159988, PMID:27328862, PMID:28065826, PMID:28087622, PMID:28379373, PMID:28492532, PMID:32860008, PMID:16417554 RGD:13207596 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937, PMID:23934111, PMID:25740509, PMID:25741868, PMID:26350515, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29655203, PMID:30311386, PMID:30578330 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 ClinVar
OMIM
PMID:18414213, PMID:25741868, PMID:26677014, PMID:27210545, PMID:28492532 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 1
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia
ClinVar Annotator: match by OMIM:121200
OMIM
ClinVar
PMID:3360469, PMID:6965523, PMID:7980108, PMID:8327138, PMID:9425895, PMID:9430594, PMID:9872318, PMID:10323247, PMID:10482260, PMID:10774989, PMID:10781098, PMID:11175290, PMID:11572947, PMID:11690625, PMID:11784811, PMID:12742592, PMID:12754513, PMID:12847176, PMID:14534157, PMID:14669214, PMID:14985406, PMID:15030501, PMID:15178210, PMID:15249611, PMID:15596769, PMID:15608631, PMID:16039833, PMID:16260777, PMID:16319223, PMID:16686649, PMID:16691402, PMID:16829045, PMID:16916607, PMID:16966552, PMID:17129708, PMID:17475800, PMID:17675531, PMID:17872363, PMID:17993630, PMID:18006581, PMID:18238816, PMID:18246739, PMID:18353052, PMID:18414213, PMID:18483067, PMID:19344764, PMID:19380078, PMID:19453707, PMID:19559753, PMID:19818940, PMID:20119593, PMID:20196795, PMID:21913284, PMID:21937445, PMID:22169383, PMID:22275249, PMID:22455920, PMID:22926866, PMID:23290024, PMID:23360469, PMID:23440208, PMID:23621294, PMID:23692823, PMID:23708187, PMID:23849776, PMID:23934111, PMID:24107868, PMID:24318194, PMID:24375629, PMID:24586341, PMID:25046240, PMID:25262651, PMID:25326635, PMID:25740509, PMID:25741868, PMID:25880994, PMID:25959266, PMID:25960349, PMID:25982755, PMID:26007637, PMID:26073431, PMID:26138355, PMID:26467025, PMID:26544041, PMID:26704558, PMID:26795593, PMID:26993267, PMID:27334371, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27861786, PMID:27864847, PMID:28133863, PMID:28139826, PMID:28399683, PMID:28492532, PMID:28602030, PMID:28687180, PMID:28973083, PMID:29056246, PMID:29129156, PMID:29186148, PMID:29190809, PMID:29215089, PMID:29390993, PMID:29429461, PMID:29655203, PMID:29933521, PMID:30126342, PMID:30185235, PMID:30311386, PMID:31199083, PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal seizures 2 ClinVar PMID:12742592, PMID:15249611, PMID:17129708, PMID:28492532, PMID:29314763, PMID:31199083 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: Autosomal dominant form of benign neonatal seizures
ClinVar Annotator: match by term: Benign familial neonatal seizures 2
DNA:missense mutation:cds:p.W309R (human)
DNA:missense mutation:cds:p.G263V (human)
ClinVar Annotator: match by OMIM:121201
OMIM
ClinVar
PMID:1859177, PMID:9425900, PMID:10852552, PMID:14534157, PMID:16235065, PMID:17765802, PMID:18249525, PMID:18625963, PMID:19298256, PMID:19344764, PMID:21703448, PMID:23020937, PMID:23146207, PMID:23360469, PMID:23596459, PMID:23934111, PMID:24375629, PMID:25740509, PMID:25741868, PMID:25982755, PMID:26350204, PMID:26350515, PMID:26467025, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29358611, PMID:29655203, PMID:30311386, PMID:30578330, PMID:10852552, PMID:9425900 RGD:9686433, RGD:9686418 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:22275249, PMID:22926866, PMID:23621294, PMID:23692823, PMID:25741868, PMID:25959266, PMID:27535030, PMID:27602407, PMID:27779742, PMID:28492532, PMID:30185235 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
Epilepsy, Benign Neonatal, 1, and/or Myokymia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629, PMID:25741868 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvp major vault protein ISO ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial
OMIM
ClinVar
PMID:11179027, PMID:22101681, PMID:22120146, PMID:22131361, PMID:22209761, PMID:22243967, PMID:22399141, PMID:22623405, PMID:22744660, PMID:22782515, PMID:22832103, PMID:22845787, PMID:22870186, PMID:22875091, PMID:22877996, PMID:22985072, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23352743, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24465263, PMID:24609974, PMID:24661410, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:27173777, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      electroclinical syndrome 396
        neonatal period electroclinical syndrome 253
          benign neonatal seizures 10
            Autosomal Recessive Infantile Epilepsy 1
            Benign Familial Infantile Seizures, 2 1
            Benign Familial Infantile Seizures, 3 1
            Benign Familial Infantile Seizures, 4 0
            Benign Familial Infantile Seizures, 5 2
            Benign Familial Neonatal Convulsions 1, Atypical Severe 0
            Benign Familial Neonatal Seizures, 1 1
            Benign Familial Neonatal Seizures, 2 2
            Benign Neonatal Epilepsy, 1 1
            Benign Neonatal Epilepsy, 1, Atypical Severe 0
            Benign Neonatal Epilepsy, Autosomal Recessive 0
            Epilepsy, Benign Neonatal, 1, and/or Myokymia 1
            Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
            Myokymia with Neonatal Epilepsy 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              electroclinical syndrome 396
                neonatal period electroclinical syndrome 253
                  benign neonatal seizures 10
                    Autosomal Recessive Infantile Epilepsy 1
                    Benign Familial Infantile Seizures, 2 1
                    Benign Familial Infantile Seizures, 3 1
                    Benign Familial Infantile Seizures, 4 0
                    Benign Familial Infantile Seizures, 5 2
                    Benign Familial Neonatal Convulsions 1, Atypical Severe 0
                    Benign Familial Neonatal Seizures, 1 1
                    Benign Familial Neonatal Seizures, 2 2
                    Benign Neonatal Epilepsy, 1 1
                    Benign Neonatal Epilepsy, 1, Atypical Severe 0
                    Benign Neonatal Epilepsy, Autosomal Recessive 0
                    Epilepsy, Benign Neonatal, 1, and/or Myokymia 1
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
                    Myokymia with Neonatal Epilepsy 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.