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 family 7, member A1 JBrowse link 18 56,524,722 56,572,939 RGD:8554872
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide JBrowse link 1 172,271,709 172,298,064 RGD:1358436
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 JBrowse link 2 181,075,579 181,135,289 RGD:11554173
RGD:8554872
RGD:13592920
G Kcnq3 potassium voltage-gated channel, subfamily Q, member 3 JBrowse link 15 65,986,390 66,286,636 RGD:8554872
RGD:13592920
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,448,910 79,466,306 RGD:8554872
G Scn2a sodium channel, voltage-gated, type II, alpha JBrowse link 2 65,620,740 65,767,448 RGD:8554872
G Scn3a sodium channel, voltage-gated, type III, alpha JBrowse link 2 65,457,118 65,567,527 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 16 32,644,099 32,683,493 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 7 127,017,535 127,021,211 RGD:7240710
RGD:8554872
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium channel, voltage-gated, type II, alpha JBrowse link 2 65,620,740 65,767,448 RGD:7240710
RGD:8554872
RGD:13207596
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium channel, voltage-gated, type VIII, alpha JBrowse link 15 100,869,789 101,045,938 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 2 181,075,579 181,135,289 RGD:7240710
RGD:8554872
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 2 181,075,579 181,135,289 RGD:8554872
G Kcnq3 potassium voltage-gated channel, subfamily Q, member 3 JBrowse link 15 65,986,390 66,286,636 RGD:7240710
RGD:8554872
RGD:9686433
RGD:9686418
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 2 181,075,579 181,135,289 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 7 126,986,860 127,014,594 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 7 127,017,535 127,021,211 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11726
    syndrome 3891
      neonatal period electroclinical syndrome 134
        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 11726
    disease of anatomical entity 11187
      nervous system disease 8520
        central nervous system disease 6550
          brain disease 6072
            epilepsy 976
              electroclinical syndrome 268
                neonatal period electroclinical syndrome 134
                  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.