GABRG2 gene related symptoms and diseases
All the information presented here about the GABRG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GABRG2 gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized tonic-clonic seizures | Very Common - Between 80% and 100% cases |
Febrile seizures | Very Common - Between 80% and 100% cases |
Absence seizures | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GABRG2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Atonic seizures
- Focal-onset seizure
- Generalized myoclonic seizures
- Myoclonus
- Postnatal microcephaly
- EEG with polyspike wave complexes
- Focal impaired awareness seizure
- Generalized-onset seizure
And 53 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GABRG2 gene
Here you will find a list of rare diseases related to the GABRG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ROLANDIC EPILEPSY
Alternate names
ROLANDIC EPILEPSY Is also known as becrs, bre, benign rolandic epilepsy, bects, centrotemporal epilepsy, benign epilepsy of childhood with centrotemporal spikes, benign familial epilepsy of childhood with rolandic spikes
Description
Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.
Most common symptoms of ROLANDIC EPILEPSY
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Abnormal facial shape
More info about ROLANDIC EPILEPSY
DRAVET SYNDROME
Alternate names
DRAVET SYNDROME Is also known as smei, severe myoclonus epilepsy of infancy, ds, severe myoclonic epilepsy of infancy, dravet syndrome
Description
Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.
Most common symptoms of DRAVET SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about DRAVET SYNDROME
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS
Alternate names
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1
Description
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS
- Intellectual disability
- Seizures
- Fever
- Generalized tonic-clonic seizures
- Generalized myoclonic seizures
More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3
Alternate names
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3 Is also known as gefs+3, gefs+, type 3
Description
Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2 ).Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.
Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3
- Seizures
- Encephalopathy
- Myoclonus
- Generalized tonic-clonic seizures
- Focal-onset seizure
More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2
Most common symptoms of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2
- Generalized tonic-clonic seizures
- Febrile seizures
- Absence seizures
- EEG with polyspike wave complexes
- EEG with spike-wave complexes (>3.5 Hz)
More info about EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2
SOURCES: OMIM
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
Search interest in GABRG2
Potential gene panels for GABRG2 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panelNGS Epilepsy/Seizure Panel Panel
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 panelChildhood Epilepsy Panel
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 panelEpilepsy/Seizure Panel
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 panelInfantile Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panelComprehensive Epilepsy Panel Panel
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 panelInfantile Epilepsy Panel Panel
By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4
More info about this panelChildhood-Onset Epilepsy Panel Panel
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 panelCustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelEpiFirst-Fever Panel
By Ambry Genetics EpiFirst-Fever that also includes the following genes: SCN1A SCN1B SCN2A SCN8A STXBP1 PCDH19 STX1B CHD2 PRRT2 GABRA1
More info about this panelEpilepsyNext Panel
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelEpiRapid reflex EpilepsyNext Panel
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 panelMECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1B SPTAN1 SLC25A22 SRPX2 GABRG2 LGI1 MECP2 POLG POLG2
More info about this panelGABRG2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GABRG2 gene.
More info about this panelSCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2
More info about this panelCHOP Epilepsy Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1
More info about this panelEpilepsy, generalized, with febrile seizures plus (sequence analysis of GABRG2 gene) Panel
By CGC Genetics
This panel specifically test the GABRG2 gene.
More info about this panelEpileptic encephalopathy (NGS panel for 67 genes) Panel
By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5
More info about this panelEarly Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
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 panelComprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
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 panelGeneralized Epilepsy With Febrile Seizures Plus via GABRG2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelEpilepsy, Childhood Absence, Susceptibility to, 2 Panel
By MGZ Medical Genetics Center
This panel specifically test the GABRG2 gene.
More info about this panelGABRG2-Related Generalized Epilepsy with Febrile Seizures Plus Panel
By MGZ Medical Genetics Center
This panel specifically test the GABRG2 gene.
More info about this panelNeurogenetic Disorders - panels Panel
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 panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
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 panelEpilepsy Panel
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 panelFebrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel that also includes the following genes: SCN1A SCN1B SCN2A SCN9A PCDH19 ADGRV1 CLCN2 TBC1D24 GABRD GABRG2
More info about this panelGeneralized epilepsy with febrile seizures plus type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy, childhood absence type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GABRG2 gene.
More info about this panelDravet syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GABRG2 gene.
More info about this panelAllNeuro panel Panel
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 panelGABRG2 Panel
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the GABRG2 gene.
More info about this panelEpileptic Encephalopathy Panel Panel
By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panelIdiopathic Generalized and Focal Epilepsy Panel Panel
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 panelSingle gene testing GABRG2 Panel
By CeGaT GmbH
This panel specifically test the GABRG2 gene.
More info about this panelChildhood absence epilepsy Panel
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 panelDravet syndrome Panel
By Laboratory of Human Genetics GENOMED Health Care Center Dravet syndrome that also includes the following genes: SCN1A SCN2A SCN9A STXBP1 PCDH19 GABRA1 GABRG2
More info about this panelGeneralized epilepsy with febrile seizures plus Panel
By Laboratory of Human Genetics GENOMED Health Care Center Generalized epilepsy with febrile seizures plus that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRD GABRG2
More info about this panelFebrile Seizures familial 8, GABRG2 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy Panel
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 panelTest for GABRG2-Related Dravet Syndrome Panel
By Secugen SL
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy, generalized with febrile seizures plus (GEFS+) 3 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GABRG2 gene.
More info about this panelFebrile seizures, familial, 8 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy, childhood absence 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy, childhood absence 1 Panel
By MedGene
This panel specifically test the GABRG2 gene.
More info about this panelEpilepsy, generalized with febrile seizures plus (GEFS+) 3 Panel
By MedGene
This panel specifically test the GABRG2 gene.
More info about this panelFebrile seizures, familial, 8 Panel
By MedGene
This panel specifically test the GABRG2 gene.
More info about this panelInvitae Epilepsy Panel Panel
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 panelEpilepsy with febrile seizures plus, Generalized: GABRG2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GABRG2 gene.
More info about this panelDRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DRAVET, SYNDROME & MIOCLONIC EPILEPSY that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 CHRNA7 NHLRC1 EPM2A
More info about this panelEPILEPSY HEREDITARY PANEL Panel
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 panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
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 panelNeurology: Sequencing Panel Panel
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 panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
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 panelEpilepsy NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelGABRG2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GABRG2 gene.
More info about this panelEssential Epilepsy NGS Panel Panel
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 panelIdiopathic Generalized Epilepsy NGS Panel Panel
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 panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
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 panelComprehensive Epilepsy NGS Panel Panel
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 panelEpileptic Encephalopathy Panel Panel
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panelComprehensive Epilepsy Panel Panel
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 panelIdiopathic Generalized and Focal Epilepsy Panel Panel
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 panelGeneralized Epilepsy with Febrile Seizures Plus (GEFS+) type III Panel
By Bioarray
This panel specifically test the GABRG2 gene.
More info about this panelDravet syndrome Panel
By Bioarray
This panel specifically test the GABRG2 gene.
More info about this panelGABRG2 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GABRG2 gene.
More info about this panelEPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS Panel
By Laboratorio de Genetica Clinica SL EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRG2 GABRG3
More info about this panelSEVERE MYOCLONIC EPILEPSY OF INFANCY (DRAVET SYNDROME) Panel
By Laboratorio de Genetica Clinica SL SEVERE MYOCLONIC EPILEPSY OF INFANCY (DRAVET SYNDROME) that also includes the following genes: SCN1A GABRG2
More info about this panelPROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
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 panelGeneralized Epilepsy with Febrile Seizures Plus, Sequencing GABRG2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GABRG2 gene.
More info about this panelFamilial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
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 panelGeneralized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2
More info about this panelSevere Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 NHLRC1 EPM2A GABRA1
More info about this panelNeuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ATP2B3 BCL6 SMIM1 CEP152 CNTN1 HSD11B1 SLC5A7