Human Phenotype Ontology 
Grandparent Node:
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Focal-onset seizure (HP:0007359)help
Parent Node:
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Focal motor seizure (HP:0011153)help
..Starting node
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Focal clonic seizure (HP:0002266)help
Term ID: 2266
Name: Focal clonic seizure
Synonym: Focal clonic seizures; Localised clonic seizure; Localized clonic seizure; Partial clonic seizure; Segmental clonic seizure
Definition: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
Comments:
Reference: HP:0002266
Genes and Diseases:
 
       Child Nodes:
........expandHemiclonic seizures (HP:0006813) help
........expandHemifacial seizures (HP:0007332) help

 Sister Nodes: 
..expandFocal behavior arrest seizure (HP:0011173) help
..expandFocal emotional seizure with crying (HP:0010820) help
..expandFocal emotional seizure with laughing (HP:0010821) help
..expandFocal hyperkinetic seizure (HP:0011174) help
..expandFocal myoclonic seizure (HP:0011166) help
..expandFocal tonic seizure (HP:0011167) 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:0002266HP:0002266Focal clonic seizure0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0002266HP:0002266Focal clonic seizure0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002266HP:0002266Focal clonic seizure0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0002266HP:0002266Focal clonic seizure0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0002266HP:0002266Focal clonic seizure0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0002266HP:0002266Focal clonic seizure0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0002266HP:0002266Focal clonic seizure0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0002266HP:0002266Focal clonic seizure0GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19134
HP:0002266HP:0002266Focal clonic seizure0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0002266HP:0002266Focal clonic seizure0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0002266HP:0002266Focal clonic seizure0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0002266HP:0002266Focal clonic seizure0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002266HP:0002266Focal clonic seizure0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0002266HP:0002266Focal clonic seizure0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0002266HP:0002266Focal clonic seizure0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0002266HP:0002266Focal clonic seizure0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0002266HP:0002266Focal clonic seizure0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002266HP:0002266Focal clonic seizure0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent528
HP:0002266HP:0002266Focal clonic seizure0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0002266HP:0002266Focal clonic seizure0KCNQ2 CL E G H37856296OMIM:121200Seizures, benign familial neonatal, 1.528
HP:0002266HP:0002266Focal clonic seizure0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent302
HP:0002266HP:0002266Focal clonic seizure0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0002266HP:0002266Focal clonic seizure0KCNQ3 CL E G H37866297OMIM:121201Epilepsy, benign neonatal, 2.302
HP:0002266HP:0002266Focal clonic seizure0LGI1 CL E G H92116572OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL175
HP:0002266HP:0002266Focal clonic seizure0MICAL1 CL E G H6478020619OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0002266HP:0002266Focal clonic seizure0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0002266HP:0002266Focal clonic seizure0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B47
HP:0002266HP:0002266Focal clonic seizure0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent94
HP:0002266HP:0002266Focal clonic seizure0RELN CL E G H56499957OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1334
HP:0002266HP:0002266Focal clonic seizure0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002266HP:0002266Focal clonic seizure0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0002266HP:0002266Focal clonic seizure0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0002266HP:0002266Focal clonic seizure0SCN1A CL E G H632310585OMIM:604403Generalized epilepsy with febrile seizures plus, type 21053
HP:0002266HP:0002266Focal clonic seizure0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0002266HP:0002266Focal clonic seizure0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52126
HP:0002266HP:0002266Focal clonic seizure0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent427
HP:0002266HP:0002266Focal clonic seizure0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0002266HP:0002266Focal clonic seizure0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent357
HP:0002266HP:0002266Focal clonic seizure0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0002266HP:0002266Focal clonic seizure0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0002266HP:0002266Focal clonic seizure0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0002266HP:0002266Focal clonic seizure0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0002266HP:0002266Focal clonic seizure0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0002266HP:0002266Focal clonic seizure0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp271
HP:0002266HP:0002266Focal clonic seizure0TBC1D24 CL E G H5746529203ORPHA:163727Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome271
HP:0002266HP:0002266Focal clonic seizure0UFSP2 CL E G H5532525640OMIM:6200282
HP:0002266HP:0032725Focal impaired awareness clonic seizure1 CL E G H
HP:0002266HP:0032711Focal aware clonic seizure1 CL E G H
HP:0002266HP:0006813Focal hemiclonic seizure1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002266HP:0006813Focal hemiclonic seizure1FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040282 - Frequent4
HP:0002266HP:0006813Focal hemiclonic seizure1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0002266HP:0006813Focal hemiclonic seizure1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002266HP:0006813Focal hemiclonic seizure1GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19.134
HP:0002266HP:0006813Focal hemiclonic seizure1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002266HP:0007332Focal hemifacial clonic seizure1GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent139
HP:0002266HP:0006813Focal hemiclonic seizure1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002266HP:0006813Focal hemiclonic seizure1GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040282 - Frequent434
HP:0002266HP:0007332Focal hemifacial clonic seizure1GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent434
HP:0002266HP:0006813Focal hemiclonic seizure1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0002266HP:0006813Focal hemiclonic seizure1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0002266HP:0006813Focal hemiclonic seizure1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002266HP:0006813Focal hemiclonic seizure1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002266HP:0006813Focal hemiclonic seizure1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002266HP:0006813Focal hemiclonic seizure1SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome).1053
HP:0002266HP:0006813Focal hemiclonic seizure1SCN1A CL E G H632310585OMIM:604403Generalized epilepsy with febrile seizures plus, type 2.1053
HP:0002266HP:0006813Focal hemiclonic seizure1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002266HP:0006813Focal hemiclonic seizure1SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0002266HP:0006813Focal hemiclonic seizure1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002266HP:0006813Focal hemiclonic seizure1SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0002266HP:0006813Focal hemiclonic seizure1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002266HP:0006813Focal hemiclonic seizure1SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0002266HP:0006813Focal hemiclonic seizure1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0002266HP:0007332Focal hemifacial clonic seizure1SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent50
HP:0002266HP:0007332Focal hemifacial clonic seizure1TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0002266HP:0007332Focal hemifacial clonic seizure1TBC1D24 CL E G H5746529203ORPHA:163727Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeHP:0040282 - Frequent271
HP:0002266HP:0032847Focal impaired awareness hemifacial clonic seizure2 CL E G H
HP:0002266HP:0032799Focal impaired awareness hemiclonic seizure2 CL E G H
HP:0002266HP:0032757Focal aware hemiclonic seizure2 CL E G H
HP:0002266HP:0032854Focal aware hemifacial clonic seizure2 CL E G H


Genes (30) :ADAM22 ATP1A3 DMXL2 FRRS1L GABBR2 GABRA1 GABRG2 GLYCTK GNB1 GRIN2A KANSL1 KCNK4 KCNQ2 KCNQ3 LGI1 MICAL1 PCDH19 PEX3 PRRT2 RELN SCN1A SCN1B SCN2A SCN8A SCN9A SLC12A5 SMARCAL1 SRPX2 TBC1D24 UFSP2

Diseases (30) :OMIM:617933 OMIM:619606 OMIM:618663 ORPHA:725 OMIM:616981 OMIM:617904 ORPHA:33069 OMIM:615744 ORPHA:1945 OMIM:220120 OMIM:616973 ORPHA:363958 ORPHA:363965 OMIM:618381 ORPHA:306 ORPHA:1949 OMIM:121200 OMIM:121201 OMIM:600512 OMIM:617370 OMIM:619317 OMIM:607208 OMIM:604403 OMIM:617350 OMIM:614558 OMIM:616645 ORPHA:1830 OMIM:608105 ORPHA:163727 OMIM:620028
 

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