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 5 127,718,978 127,771,047 RGD:9068941
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 139,390,549 139,418,311 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 61,327,310 61,395,315 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 131,747,069 132,110,448 RGD:9068941
G LOC100977262 sodium channel protein type 2 subunit alpha JBrowse link 2B 169,873,992 170,026,392 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 2B 169,722,134 169,838,590 RGD:9068941
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNK2 tyrosine kinase non receptor 2 JBrowse link 3 203,219,978 203,254,498 RGD:9068941
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 30,182,381 30,186,015 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100977262 sodium channel protein type 2 subunit alpha JBrowse link 2B 169,873,992 170,026,392 RGD:7240710
RGD:9068941
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 37,725,471 38,057,190 RGD:9068941
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 61,327,310 61,395,315 RGD:7240710
RGD:9068941
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 61,327,310 61,395,315 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 131,747,069 132,110,448 RGD:7240710
RGD:9068941
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 61,327,310 61,395,315 RGD:9068941
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MVP major vault protein JBrowse link 16 30,190,929 30,217,971 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 30,182,381 30,186,015 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11150
    syndrome 3741
      neonatal period electroclinical syndrome 135
        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 11150
    disease of anatomical entity 10664
      nervous system disease 8186
        central nervous system disease 6313
          brain disease 5847
            epilepsy 949
              electroclinical syndrome 263
                neonatal period electroclinical syndrome 135
                  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.