Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nervous system electrophysiology (HP:0001311)help
Parent Node:
expandAbnormality of central nervous system electrophysiology (HP:0030178)help
..Starting node
..expandJerk-locked premyoclonus spikes (HP:0001351)help
Term ID: 1351
Name: Jerk-locked premyoclonus spikes
Synonym:
Definition: Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
Comments:
Reference: HP:0001351
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal auditory evoked potentials (HP:0006958) help
..expandAbnormal motor evoked potentials (HP:0012896) help
..expandAbnormality of somatosensory evoked potentials (HP:0007377) help
..expandEEG abnormality (HP:0002353) 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:0001351HP:0001351Jerk-locked premyoclonus spikes0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.
HP:0001351HP:0001351Jerk-locked premyoclonus spikes0SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 1.2
HP:0001351HP:0001351Jerk-locked premyoclonus spikes0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2.
HP:0001351HP:0001351Jerk-locked premyoclonus spikes0YEATS2 CL E G H5568925489OMIM:615127Epilepsy, familial adult myoclonic, 4.1


Genes (4) :MARCHF6 SAMD12 STARD7 YEATS2

Diseases (4) :OMIM:613608 OMIM:601068 OMIM:607876 OMIM:615127
 

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