ONTOLOGY REPORT - ANNOTATIONS


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 Familial Neonatal Convulsions;   Benign Familial Neonatal Epilepsy;   Benign Familial Neonatal Infantile Seizures;   Benign Neonatal Convulsion;   Benign Neonatal Convulsions;   Benign Neonatal Epilepsies;   Benign Neonatal Non Familial Convulsions;   Benign Neonatal Nonfamilial Epilepsy;   Benign Neonatal-Infantile Epilepsies;   Benign Neonatal-Infantile Epilepsy;   NEONATAL SEIZURES;   benign familial infantile convulsions;   benign familial infantile convulsions syndrome;   benign familial neonatal seizures;   benign neonatal epilepsy;   non familial benign neonatal epilepsy
 primary_id: MESH:D020936
 alt_id: OMIM:601764;   RDO:0000537
 xref: OMIM:PS121200;   OMIM:PS601764;   ORDO:1949
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benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 JBrowse link 5 126,541,841 126,595,390 RGD:8554872
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 160,115,730 160,143,591 RGD:1358436
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,677 RGD:11554173
RGD:8554872
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 132,120,858 132,480,757 RGD:8554872
RGD:13592920
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,305 89,334,795 RGD:8554872
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 2 165,208,056 165,392,310 RGD:8554872
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 2 165,087,520 165,204,295 RGD:8554872
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNK2 tyrosine kinase non receptor 2 JBrowse link 3 195,863,364 195,909,009 RGD:8554872
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 29,812,088 29,815,920 RGD:8554872
RGD:7240710
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 2 165,208,056 165,392,310 RGD:13207596
RGD:8554872
RGD:7240710
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 12 51,589,958 51,812,864 RGD:8554872
RGD:7240710
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,677 RGD:8554872
RGD:7240710
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,677 RGD:8554872
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 132,120,858 132,480,757 RGD:9686418
RGD:8554872
RGD:7240710
RGD:9686433
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,677 RGD:8554872
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MVP major vault protein JBrowse link 16 29,820,394 29,848,039 RGD:8554872
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 29,812,088 29,815,920 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    syndrome 4349
      neonatal period electroclinical syndrome 143
        benign neonatal seizures 11
          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 1
          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 0
          Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
          Myokymia with Neonatal Epilepsy 0
Path 2
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 14228
      nervous system disease 10381
        central nervous system disease 8181
          brain disease 7650
            epilepsy 1035
              electroclinical syndrome 294
                neonatal period electroclinical syndrome 143
                  benign neonatal seizures 11
                    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 1
                    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 0
                    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.