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 11 15,828,581 15,878,556 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 24 47,060,527 47,089,077 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 13 28,765,472 29,062,371 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 36 10,300,091 10,405,361 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 33 29,153,636 29,177,568 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 6 17,872,670 17,877,502 RGD:7240710
RGD:9068941
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 36 10,472,496 10,605,055 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 27 3,174,257 3,348,349 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 24 47,060,527 47,089,077 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 24 47,060,527 47,089,077 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 13 28,765,472 29,062,371 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 24 47,060,527 47,089,077 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 6 17,879,687 17,903,184 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 6 17,872,670 17,877,502 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11301
    syndrome 3764
      neonatal period electroclinical syndrome 131
        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 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 11301
    disease of anatomical entity 10812
      nervous system disease 8297
        central nervous system disease 6383
          brain disease 5916
            epilepsy 961
              electroclinical syndrome 263
                neonatal period electroclinical syndrome 131
                  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 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.