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.
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
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
Search interest in SCN3A
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 United States.
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 United States.
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 United States.
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 United States.
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.
Single gene testing SCN3A Panel
Germany.
By CeGaT GmbH
This panel specifically test the SCN3A gene.
More info about this panel Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
SCN3A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCN3A gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NRXN3 AHCY LEFTY2 NCKAP5 CTH TUBA4A