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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 familial neonatal epilepsy
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Accession:DOID:14777 term browser browse the term
Synonyms:exact_synonym: Benign Familial Neonatal Infantile Seizures;   benign familial infantile convulsions;   benign familial infantile convulsions syndrome;   benign familial neonatal convulsions;   benign familial neonatal seizures;   familial neonatal seizures
 primary_id: RDO:9004855
 alt_id: OMIM:601764
 xref: GARD:2159;   OMIM:PS601764
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
benign familial neonatal epilepsy 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 ClinVar PMID:18625963 PMID:19464834 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: Benign familial neonatal seizures ClinVar PMID:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 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 Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar Annotator: match by term: Benign familial infantile convulsions
ClinVar PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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:22895590 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:30980674 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 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
DNA: missense mutation: exon 16 : p.N1001K
OMIM
ClinVar
PMID:3508699 PMID:6660252 PMID:11326335 PMID:11371648 PMID:11738931 PMID:12243921 PMID:12610651 PMID:15048894 PMID:15301839 PMID:15316014 PMID:16884893 PMID:17021166 PMID:18414213 PMID:18479388 PMID:19702560 PMID:19786696 PMID:20371507 PMID:20956790 PMID:21416599 PMID:21692795 PMID:21893419 PMID:22029951 PMID:22495306 PMID:22581653 PMID:22591750 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23360469 PMID:23550958 PMID:23758435 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24848745 PMID:25326635 PMID:25326637 PMID:25348405 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26068938 PMID:26350204 PMID:26467025 PMID:26637798 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27153334 PMID:27159988 PMID:27290639 PMID:27328862 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27854218 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28867142 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29358611 PMID:29625812 PMID:29655203 PMID:30564305 PMID:30619928 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
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
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: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 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:7980108 PMID:9425895 PMID:9430594 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 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: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:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29429461 PMID:29655203 PMID:29933521 PMID:30126342 PMID:30185235 PMID:31152295 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:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879, 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, 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 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 16091
    syndrome 7036
      electroclinical syndrome 392
        neonatal period electroclinical syndrome 255
          benign familial neonatal epilepsy 8
            Benign Familial Infantile Seizures, 2 1
            Benign Familial Infantile Seizures, 3 3
            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, and/or Myokymia 1
            Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            epilepsy 1485
              electroclinical syndrome 392
                neonatal period electroclinical syndrome 255
                  benign familial neonatal epilepsy 8
                    Benign Familial Infantile Seizures, 2 1
                    Benign Familial Infantile Seizures, 3 3
                    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, and/or Myokymia 1
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
paths to the root