Human Phenotype Ontology 
Grandparent Node:
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Seizure (HP:0001250)help
Parent Node:
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Status epilepticus (HP:0002133)help
..Starting node
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Epilepsia partialis continua (HP:0012847)help
Term ID: 12847
Name: Epilepsia partialis continua
Synonym: Epilepsia partialis continua of Kojevnikov; Kojevnikov's epilepsia; Kozhevnikov's epilepsia
Definition: Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).
Comments:
Reference: HP:0012847
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandStatus epilepticus without prominent motor symptoms (HP:0031475) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012847HP:0012847Epilepsia partialis continua0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0012847HP:0012847Epilepsia partialis continua0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0012847HP:0012847Epilepsia partialis continua0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012847HP:0012847Epilepsia partialis continua0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0012847HP:0012847Epilepsia partialis continua0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0012847HP:0012847Epilepsia partialis continua0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0012847HP:0012847Epilepsia partialis continua0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0012847HP:0012847Epilepsia partialis continua0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0012847HP:0012847Epilepsia partialis continua0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0012847HP:0012847Epilepsia partialis continua0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113


Genes (10) :GABRA1 GABRG2 MRM2 PCDH19 POLG SCN1A SCN1B SCN2A SCN9A TWNK

Diseases (4) :ORPHA:33069 OMIM:618567 OMIM:203700 OMIM:271245
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.