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 NW_004936575 6,467,224 6,506,052 RGD:9068941
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004936514 10,735,247 10,787,682 RGD:9068941
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link NW_004936470 16,712,508 17,009,648 RGD:9068941
G LOC101966570 sodium/potassium-transporting ATPase subunit alpha-2 JBrowse link NW_004936740 489,357 514,235 RGD:9068941
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004936483 15,178,947 15,196,277 RGD:9068941
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004936469 13,872,701 14,019,170 RGD:9068941
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link NW_004936469 14,072,182 14,180,552 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 NW_004936784 636,105 685,080 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 NW_004936501 12,660,181 12,663,788 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 NW_004936469 13,872,701 14,019,170 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 NW_004936512 9,164,310 9,281,795 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 NW_004936514 10,735,247 10,787,682 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 NW_004936514 10,735,247 10,787,682 RGD:9068941
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link NW_004936470 16,712,508 17,009,648 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 NW_004936514 10,735,247 10,787,682 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 NW_004936501 12,598,907 12,610,306 RGD:9068941
G Prrt2 proline rich transmembrane protein 2 JBrowse link NW_004936501 12,660,181 12,663,788 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10652
    syndrome 3654
      neonatal period electroclinical syndrome 132
        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 10652
    disease of anatomical entity 10186
      nervous system disease 7878
        central nervous system disease 6055
          brain disease 5602
            epilepsy 933
              electroclinical syndrome 260
                neonatal period electroclinical syndrome 132
                  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.