JRK gene related symptoms and diseases
All the information presented here about the JRK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to JRK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Absence seizures | Very Common - Between 80% and 100% cases |
| Generalized tonic-clonic seizures | Very Common - Between 80% and 100% cases |
| EEG with polyspike wave complexes | Very Common - Between 80% and 100% cases |
| Generalized myoclonic seizures | Very Common - Between 80% and 100% cases |
| Febrile seizures | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with JRK gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Seizures
Not very common - Between 30% and 50% cases
- Intellectual disability
- EEG with generalized polyspikes
- Morning myoclonic jerks
- Photosensitive tonic-clonic seizures
- Abnormality of the mouth
- Generalized-onset seizure
- Status epilepticus
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to JRK gene
Here you will find a list of rare diseases related to the JRK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JUVENILE MYOCLONIC EPILEPSY
Alternate names
JUVENILE MYOCLONIC EPILEPSY Is also known as janz syndrome, juvenile myoclonus epilepsy, jme, myoclonic epilepsy, juvenile, petit mal, impulsive
Description
Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
Most common symptoms of JUVENILE MYOCLONIC EPILEPSY
- Intellectual disability
- Seizures
- Depressivity
- Myoclonus
- Aggressive behavior
More info about JUVENILE MYOCLONIC EPILEPSY
CHILDHOOD ABSENCE EPILEPSY
Alternate names
CHILDHOOD ABSENCE EPILEPSY Is also known as pyknolepsy
Description
Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.
Most common symptoms of CHILDHOOD ABSENCE EPILEPSY
- Seizures
- Generalized tonic-clonic seizures
- Generalized myoclonic seizures
- Febrile seizures
- Absence seizures
More info about CHILDHOOD ABSENCE EPILEPSY
Search interest in JRK
Potential gene panels for JRK gene
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Childhood absence epilepsy Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Childhood absence epilepsy that also includes the following genes: SLC2A1 CACNA1H GABRA1 GABRB3 GABRG2 JRK
More info about this panel Poland.
EPILEPSY HEREDITARY PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panel Spain.
JRK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the JRK gene.
More info about this panel United States.
JUVENILE MYOCLONIC EPILEPSY Panel
Spain.
By Laboratorio de Genetica Clinica SL JUVENILE MYOCLONIC EPILEPSY that also includes the following genes: CACNB4 EFHC1 CLCN2 GABRA1 JRK KCNQ3
More info about this panel Spain.
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like APCDD1 HESX1 BGN DIAPH3 GEN1 STUB1 CTDP1