SCN3A gene related symptoms and diseases

All the information presented here about the SCN3A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SCN3A gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SCN3A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Absent speech
  • Epileptic encephalopathy
  • Not very common - Between 30% and 50% cases

  • Cerebral visual impairment
  • Abnormality of the cerebral white matter
  • Polymicrogyria
  • Inability to walk
  • Spastic tetraplegia
  • Hypsarrhythmia

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SCN3A gene

Here you will find a list of rare diseases related to the SCN3A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY


Alternate names

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

SOURCES: OMIM ORPHANET

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62


Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

SOURCES: OMIM

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4


Description

FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Most common symptoms of EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ptosis


More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4

SOURCES: OMIM


Potential gene panels for SCN3A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

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

Epilepsy: SCN3A-Related Epilepsy via SCN3A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SCN3A gene.

More info about this panel

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

Single gene testing SCN3A Panel

Germany.

By CeGaT GmbH

This panel specifically test the SCN3A gene.

More info about this panel

Invitae Epilepsy Panel Panel

United States.

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

SCN3A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCN3A gene.

More info about this panel


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