NPRL2 gene related symptoms and diseases

All the information presented here about the NPRL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NPRL2 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Polymicrogyria Uncommon - Between 30% and 50% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NPRL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cortical dysplasia
  • Perisylvian polymicrogyria
  • Focal cortical dysplasia
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Rare diseases associated to NPRL2 gene

Here you will find a list of rare diseases related to the NPRL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI


Alternate names

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI Is also known as ffevf, familial partial epilepsy with variable foci

Description

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


More info about FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

SOURCES: ORPHANET

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2


Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Most common symptoms of EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Polymicrogyria
  • Focal-onset seizure


More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2

SOURCES: OMIM


Potential gene panels for NPRL2 gene

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Epilepsy: Focal Epilepsy and Focal Cortical Dysplasia via NPRL2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NPRL2 gene.

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

NPRL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NPRL2 gene.

More info about this panel


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