CHRNA2 gene related symptoms and diseases
All the information presented here about the CHRNA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHRNA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Behavioral abnormality | Very Common - Between 80% and 100% cases |
| Dystonia | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Focal-onset seizure | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CHRNA2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Stereotypy
- Hyperkinesis
- Focal sensory seizure
- Generalized hypotonia
- Myoclonus
- EEG abnormality
- Confusion
- Cyanosis
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CHRNA2 gene
Here you will find a list of rare diseases related to the CHRNA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Alternate names
AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Is also known as adnfle
Description
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
Most common symptoms of AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
- Intellectual disability
- Seizures
- Behavioral abnormality
- Dystonia
- Focal-onset seizure
More info about AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4
Alternate names
EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 Is also known as epilepsy, familial, with nocturnal wandering and ictal fear
Description
Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) (Trivisano et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).
Most common symptoms of EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4
- Seizures
- Generalized hypotonia
- Behavioral abnormality
- Dystonia
- Myoclonus
More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4
Search interest in CHRNA2
Potential gene panels for CHRNA2 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.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Childhood Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Childhood Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 UBE3A CNTNAP2 CACNB4
More info about this panel United States.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
Comprehensive Epilepsy Panel Panel
United States.
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panel United States.
Childhood-Onset Epilepsy Panel Panel
United States.
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
EpiFirst-Focal Panel
United States.
By Ambry Genetics EpiFirst-Focal that also includes the following genes: SCN1A SCN1B DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH PRRT2 GRIN2A
More info about this panel United States.
EpilepsyNext Panel
United States.
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
EpiRapid reflex EpilepsyNext Panel
United States.
By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
CHRNA2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CHRNA2 gene.
More info about this panel Spain.
SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 PCDH19 ARX CHRNA2 CHRNA4 CHRNB2
More info about this panel Spain.
Nocturnal frontal lobe epilepsy (sequence analysis of CHRNA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CHRNA2 gene.
More info about this panel Portugal.
Nocturnal frontal lobe epilepsy (NGS panel for 4 genes) Panel
Portugal.
By CGC Genetics Nocturnal frontal lobe epilepsy (NGS panel for 4 genes) that also includes the following genes: KCNT1 CHRNA2 CHRNA4 CHRNB2
More info about this panel Portugal.
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 United States.
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 United States.
Epilepsy: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Type 4 via CHRNA2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CHRNA2 gene.
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.
Familial Focal Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Familial Focal Epilepsy that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 LGI1
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Focal epilepsy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Focal epilepsy panel that also includes the following genes: SYN1 ELP4 KCNT1 CHRNA2 CHRNA4 CHRNB2 SRPX2 GRIN2A LGI1
More info about this panel Netherlands.
Epilepsy, nocturnal frontal lobe type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CHRNA2 gene.
More info about this panel Germany.
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.
Autosomal dominant nocturnal frontal lobe epilepsy type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CHRNA2 gene.
More info about this panel Germany.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Germany.
By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4
More info about this panel Germany.
Single gene testing CHRNA2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CHRNA2 gene.
More info about this panel Germany.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
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, nocturnal frontal lobe, type 4: CHRNA2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CHRNA2 gene.
More info about this panel Spain.
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.
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.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
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.
CHRNA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHRNA2 gene.
More info about this panel United States.
Essential Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel United States.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
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.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Finland.
By Blueprint Genetics Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A1 CACNA1H CACNB4 CASR
More info about this panel Finland.
Epilepsy, nocturnal frontal lobe, 3 Panel
Spain.
By Bioarray
This panel specifically test the CHRNA2 gene.
More info about this panel Spain.
EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH
More info about this panel Spain.
EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH
More info about this panel Spain.
Nocturnal Frontal Lobe Epilepsy Type 4 , Sequencing CHRNA2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHRNA2 gene.
More info about this panel Spain.
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panel Spain.
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
Spain.
By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
More info about this panel Spain.
Nocturnal Frontal Lobe Epilepsy , Panel Massive Sequencing (NGS) CHRNA2,CHRNA4,CHRNB2 Gene Panel
Spain.
By Reference Laboratory Genetics Nocturnal Frontal Lobe Epilepsy , Panel Massive Sequencing (NGS) CHRNA2,CHRNA4,CHRNB2 Gene that also includes the following genes: CHRNA2 CHRNA4 CHRNB2
More info about this panel Spain.
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