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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM MESH

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

SOURCES: ORPHANET OMIM


Potential gene panels for GABRG2 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 Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

United States.

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 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.

Infantile Epilepsy Panel

United States.

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 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.

Infantile Epilepsy Panel Panel

United States.

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 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-Fever Panel

United States.

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 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.

MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

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 panel
Spain.

GABRG2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GABRG2 gene.

More info about this panel
Spain.

SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS Panel

Spain.

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 panel
Spain.

CHOP Epilepsy Panel Panel

United States.

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 panel
United States.

Epilepsy, generalized, with febrile seizures plus (sequence analysis of GABRG2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GABRG2 gene.

More info about this panel
Portugal.

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Portugal.

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 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.

Generalized Epilepsy With Febrile Seizures Plus via GABRG2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GABRG2 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.

Epilepsy, Childhood Absence, Susceptibility to, 2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the GABRG2 gene.

More info about this panel
Germany.

GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the GABRG2 gene.

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.

Epileptic Encephalopathy Panel

Germany.

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 panel
Germany.

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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 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.

Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Panel

Netherlands.

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 panel
Netherlands.

Generalized epilepsy with febrile seizures plus type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GABRG2 gene.

More info about this panel
Germany.

Epilepsy, childhood absence type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GABRG2 gene.

More info about this panel
Germany.

Dravet syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GABRG2 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.

GABRG2 Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the GABRG2 gene.

More info about this panel
Denmark.

Epileptic Encephalopathy Panel Panel

Germany.

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 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 GABRG2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GABRG2 gene.

More info about this panel
Germany.

Childhood absence epilepsy Panel

Poland.

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 panel
Poland.

Dravet syndrome Panel

Poland.

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 panel
Poland.

Generalized epilepsy with febrile seizures plus Panel

Poland.

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 panel
Poland.

Febrile Seizures familial 8, GABRG2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the GABRG2 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.

Test for GABRG2-Related Dravet Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the GABRG2 gene.

More info about this panel
Spain.

Epilepsy, generalized with febrile seizures plus (GEFS+) 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GABRG2 gene.

More info about this panel
Austria.

Febrile seizures, familial, 8 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GABRG2 gene.

More info about this panel
Austria.

Epilepsy, childhood absence 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GABRG2 gene.

More info about this panel
Austria.

Epilepsy, childhood absence 1 Panel

Slovakia.

By MedGene

This panel specifically test the GABRG2 gene.

More info about this panel
Slovakia.

Epilepsy, generalized with febrile seizures plus (GEFS+) 3 Panel

Slovakia.

By MedGene

This panel specifically test the GABRG2 gene.

More info about this panel
Slovakia.

Febrile seizures, familial, 8 Panel

Slovakia.

By MedGene

This panel specifically test the GABRG2 gene.

More info about this panel
Slovakia.

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 with febrile seizures plus, Generalized: GABRG2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GABRG2 gene.

More info about this panel
Spain.

DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel

Spain.

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 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.

Intellectual Disability NGS Panel Panel

United States.

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 panel
United States.

GABRG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GABRG2 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.

Epileptic Encephalopathy Panel Panel

Finland.

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 panel
Finland.

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.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type III Panel

Spain.

By Bioarray

This panel specifically test the GABRG2 gene.

More info about this panel
Spain.

Dravet syndrome Panel

Spain.

By Bioarray

This panel specifically test the GABRG2 gene.

More info about this panel
Spain.

GABRG2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the GABRG2 gene.

More info about this panel
United States.

EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS Panel

Spain.

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 panel
Spain.

SEVERE MYOCLONIC EPILEPSY OF INFANCY (DRAVET SYNDROME) Panel

Spain.

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 panel
Spain.

PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

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 panel
Spain.

Generalized Epilepsy with Febrile Seizures Plus, Sequencing GABRG2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GABRG2 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.

Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

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 panel
Spain.

Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes Panel

Spain.

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 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.

If 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