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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM


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

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

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

JRK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the JRK gene.

More info about this panel

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

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


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