KCNQ2 gene related symptoms and diseases

All the information presented here about the KCNQ2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KCNQ2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Epileptic encephalopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KCNQ2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the nervous system
  • Hypertonia
  • Myokymia
  • Generalized tonic-clonic seizures
  • Hypsarrhythmia
  • Cognitive impairment
  • Muscular hypotonia
  • Apnea

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KCNQ2 gene

Here you will find a list of rare diseases related to the KCNQ2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY


Alternate names

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy, kcnq2-nee

Description

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

Most common symptoms of KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

SOURCES: ORPHANET

BENIGN FAMILIAL INFANTILE EPILEPSY


Alternate names

BENIGN FAMILIAL INFANTILE EPILEPSY Is also known as bfis, benign familial infantile seizures, bfie, benign familial infantile convulsions

Description

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

Most common symptoms of BENIGN FAMILIAL INFANTILE EPILEPSY

  • Seizures
  • Muscular hypotonia
  • Fatigue
  • Hypertonia
  • Myoclonus


More info about BENIGN FAMILIAL INFANTILE EPILEPSY

SOURCES: ORPHANET

BENIGN FAMILIAL NEONATAL EPILEPSY


Alternate names

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns, benign familial neonatal convulsions, benign familial neonatal seizures

Description

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

Most common symptoms of BENIGN FAMILIAL NEONATAL EPILEPSY

  • Seizures
  • Cognitive impairment
  • Hypertonia


More info about BENIGN FAMILIAL NEONATAL EPILEPSY

SOURCES: ORPHANET

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Alternate names

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis, benign neonatal-infantile epilepsy

Description

Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

Most common symptoms of BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

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


More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

SOURCES: ORPHANET OMIM

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1


Description

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Most common symptoms of SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

SOURCES: OMIM

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2


Alternate names

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 Is also known as convulsions, benign familial neonatal, 2, bfnc2

Description

Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (OMIM ).

Most common symptoms of SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

  • Seizures
  • Generalized tonic-clonic seizures
  • Focal-onset seizure
  • Focal impaired awareness seizure
  • Focal clonic seizures


More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

SOURCES: OMIM


Potential gene panels for KCNQ2 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

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

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

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

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

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Early Infantile Epileptic Encephalopathy Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Epilepsy Panel - Comprehensive Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5

More info about this panel

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

STAT Epilepsy Panel Panel

United States.

By GeneDx STAT Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SPTAN1 CDKL5 STXBP1 PCDH19 ARX

More info about this panel

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

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

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

EpiFirst-Infantile Spasms Panel

United States.

By Ambry Genetics EpiFirst-Infantile Spasms that also includes the following genes: SCN2A SCN8A SIK1 SPTAN1 CDKL5 STXBP1 TSC1 TSC2 ARX KCNT1

More info about this panel

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

EpiRapid Panel

United States.

By Ambry Genetics EpiRapid that also includes the following genes: SCN1A SCN8A SLC2A1 STXBP1 TSC1 TSC2 PCDH19 KCNT1 PNPO PRRT2

More info about this panel

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

KCNQ2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KCNQ2 gene.

More info about this panel

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

KCNQ2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KCNQ2 gene.

More info about this panel

SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: KCNQ2 KCNQ3

More info about this panel

SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: PRRT2 KCNQ2

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KCNQ2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KCNQ2 gene.

More info about this panel

Rapid Epilepsy Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Rapid Epilepsy Seq Analysis that also includes the following genes: SCN1A SCN2A SCN8A SLC2A1 SLC6A8 NHLRC1 CSTB PNPO EPM2A GAMT

More info about this panel

Rapid Epilepsy Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Rapid Epilepsy Seq + Del/Dup Panel that also includes the following genes: SCN1A SCN2A SCN8A SLC2A1 SLC6A8 NHLRC1 CSTB PNPO EPM2A GAMT

More info about this panel

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

Rapid Epilepsy Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Rapid Epilepsy Del/Dup Panel that also includes the following genes: SCN1A SCN2A SCN8A SLC2A1 SLC6A8 NHLRC1 CSTB PNPO EPM2A GAMT

More info about this panel

Epileptic encephalopathy, early infantile 1 (sequence analysis of KCNQ2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KCNQ2 gene.

More info about this panel

Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel

Portugal.

By CGC Genetics Early infantile epileptic encephalopathy (NGS panel for 26 genes) that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SPTAN1 CDKL5 STXBP1 WWOX PCDH19 ARHGEF9

More info about this panel

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

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

Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via KCNQ2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KCNQ2 gene.

More info about this panel

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

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

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Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

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KCNQ2-Related Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the KCNQ2 gene.

More info about this panel

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

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

Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS) Panel

Germany.

By MGZ Medical Genetics Center Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS) that also includes the following genes: SCN2A PRRT2 KCNQ2 KCNQ3

More info about this panel

Epileptic Encephalopathy – Basic Diagnostics Panel

Germany.

By MGZ Medical Genetics Center Epileptic Encephalopathy – Basic Diagnostics that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 SYNGAP1 PCDH19 ARX KCNT1 PNPO

More info about this panel

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

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

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

KCNQ2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the KCNQ2 gene.

More info about this panel

Benign neonatal/infantile convulsions panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Benign neonatal/infantile convulsions panel that also includes the following genes: SCN2A TBC1D24 PRRT2 KCNQ2 KCNQ3

More info about this panel

Epileptic encephalopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic encephalopathy panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

More info about this panel

Early infantile epileptic encephalopathy type 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KCNQ2 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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

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New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Benign familial neonatal seizures Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KCNQ2 gene.

More info about this panel

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

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

Episodic Ataxia Panel Panel

Germany.

By CeGaT GmbH Episodic Ataxia Panel that also includes the following genes: SLC1A3 SLC2A1 CACNA1A CACNB4 FGF14 KCNA1 KCNQ2

More info about this panel

Single gene testing KCNQ2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the KCNQ2 gene.

More info about this panel

Epileptic encephalopathy, early infantile 7, KCNQ2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the KCNQ2 gene.

More info about this panel

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

Epilepsy, benign neonatal 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the KCNQ2 gene.

More info about this panel

Epileptic encephalopathy, early infantile 7 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the KCNQ2 gene.

More info about this panel

Epilepsy, benign neonatal 1 Panel

Slovakia.

By MedGene

This panel specifically test the KCNQ2 gene.

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Epileptic encephalopathy, early infantile 7 Panel

Slovakia.

By MedGene

This panel specifically test the KCNQ2 gene.

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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

Invitae Early Infantile Epileptic Encephalopathy Panel Panel

United States.

By Invitae Invitae Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC6A1 SMC1A SPTAN1 CDKL5

More info about this panel

Epilepsy, Benign familial neonatal: KCNQ2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KCNQ2 gene.

More info about this panel

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

Epileptic encephalopathies Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Epileptic encephalopathies that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SLC2A1 SPTAN1 CDKL5 STXBP1 TREX1 WWOX

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Rett, Syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

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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

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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

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

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

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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

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Migraine NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Migraine NGS Panel that also includes the following genes: SCN1A SLC2A1 CDKL5 STXBP1 CACNA1A PCDH19 ARX PNPO FOLR1 FOXG1

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Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

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KCNQ2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNQ2 gene.

More info about this panel

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

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

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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

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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

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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

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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

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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

Seizures, benign familial infantile, 2 Panel

Spain.

By Bioarray

This panel specifically test the KCNQ2 gene.

More info about this panel

Benign familial neonatal seizures Panel

Spain.

By Bioarray

This panel specifically test the KCNQ2 gene.

More info about this panel

Benign familial neonatal seizures Panel

Spain.

By Bioarray

This panel specifically test the KCNQ2 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY that also includes the following genes: SPTAN1 CDKL5 STXBP1 ARX SLC25A22 KCNQ2

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BENIGN FAMILIAL INFANTILE EPILEPSY Panel

Spain.

By Laboratorio de Genetica Clinica SL BENIGN FAMILIAL INFANTILE EPILEPSY that also includes the following genes: SCN2A PRRT2 KCNQ2 KCNQ3

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BENING FAMILIAL NEONATAL EPILEPSY Panel

Spain.

By Laboratorio de Genetica Clinica SL BENING FAMILIAL NEONATAL EPILEPSY that also includes the following genes: KCNQ2 KCNQ3

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INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL that also includes the following genes: SCN1A SCN2A SCN8A SPTAN1 CDKL5 STXBP1 PCDH19 ARHGEF9 PLCB1 ARX

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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

Benign Familial Neonatal Epilepsy, Sequencing KCNQ2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KCNQ2 gene.

More info about this panel

Benign Familial Neonatal Epilepsy , Deletions-Duplications (MLPA) KCNQ2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KCNQ2 gene.

More info about this panel

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

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Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

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Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SCN2A PRRT2 KCNQ2 KCNQ3

More info about this panel

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN1A SCN2A SCN8A SCN9A ST3GAL3 SLC1A2 SLC25A12 SPTAN1 CDKL5 STXBP1

More info about this panel

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

KCNQ2-Related Disorders: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the KCNQ2 gene.

More info about this panel

KCNQ2-Related Disorders: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the KCNQ2 gene.

More info about this panel


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