PRRT2 gene related symptoms and diseases

All the information presented here about the PRRT2 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 PRRT2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Migraine Very Common - Between 80% and 100% cases
Dyskinesia Very Common - Between 80% and 100% cases
Choreoathetosis Very Common - Between 80% and 100% cases
Abnormality of movement Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PRRT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Myoclonus
  • Dystonia
  • Involuntary movements
  • Paroxysmal dystonia
  • Ataxia
  • Focal-onset seizure
  • Paroxysmal dyskinesia
  • Not very common - Between 30% and 50% cases

  • Chorea

And 112 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PRRT2 gene

Here you will find a list of rare diseases related to the PRRT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Alternate names

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia, dyt18, dystonia 18, ped, paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Description

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

Most common symptoms of PAROXYSMAL EXERTION-INDUCED DYSKINESIA

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


More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

SOURCES: ORPHANET OMIM MESH

PAROXYSMAL KINESIGENIC DYSKINESIA


Alternate names

PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10, pkd, paroxysmal kinesigenic choreathetosis, dystonia, familial paroxysmal, pkc, familial paroxysmal kinesigenic dyskinesia, familial pkd, paroxysmal kinesigenic dyskinesia, dyt10, paroxysmal kinesigenic choreoathetosis

Description

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

Most common symptoms of PAROXYSMAL KINESIGENIC DYSKINESIA

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Dystonia
  • Myoclonus


More info about PAROXYSMAL KINESIGENIC DYSKINESIA

SOURCES: OMIM MESH 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

FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE


Description

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Most common symptoms of FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

SOURCES: OMIM ORPHANET

INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Alternate names

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions, icca syndrome, pkd/ic, infantile convulsions and paroxysmal choreoathetosis, familial, paroxysmal kinesigenic dyskinesia with infantile convulsions

Description

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

Most common symptoms of INFANTILE CONVULSIONS AND CHOREOATHETOSIS

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

SOURCES: OMIM ORPHANET MESH

PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Alternate names

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis, choreoathetosis, nonkinesigenic, pdc, dystonia 8, paroxystic non-kinesigenic choreoathetosis, dyt8, choreoathetosis, familial paroxysmal, mount-reback syndrome, fpd1

Description

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

Most common symptoms of PAROXYSMAL NON-KINESIGENIC DYSKINESIA

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

SOURCES: OMIM ORPHANET

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2


Alternate names

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2, convulsions, benign familial infantile, 2

Description

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

Most common symptoms of SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

SOURCES: MESH OMIM


Potential gene panels for PRRT2 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

Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine that also includes the following genes: SCN1A SLC2A1 CACNA1A PRRT2 NOTCH3 ATP1A2 POLG

More info about this panel

PRRT2 (Dyskinesia/IC) Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PRRT2 gene.

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

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

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

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-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

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

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

Familial Hemiplegic Migraine Panel Panel

United States.

By Ambry Genetics Familial Hemiplegic Migraine Panel that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2

More info about this panel

PRRT2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRRT2 gene.

More info about this panel

PRRT2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRRT2 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: SCN2A PRRT2

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

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

Episodic kinesigenic dyskinesia 1 (sequence analysis of PRRT2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRRT2 gene.

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

Dystonia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B

More info about this panel

Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRRT2 gene.

More info about this panel

Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRRT2 gene.

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

Hemiplegic Migraine and PRRT2-Related Disorders via PRRT2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PRRT2 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

Familial Hemiplegic Migraine Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hemiplegic Migraine Sequencing Panel with CNV Detection that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2

More info about this panel

Dystonia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

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

More info about this panel

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

More info about this panel

Familial Paroxysmal Kinesigenic Dyskinesia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PRRT2 gene.

More info about this panel

Benign Familial Infantile Seizures 2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PRRT2 gene.

More info about this panel

Familial Infantile Convulsions with Paroxysmal Choreoathetosis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PRRT2 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

Ataxia Panel

Germany.

By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3

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

Episodic Ataxia and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2

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

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

Epilepsy with paroxysmal disorders panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epilepsy with paroxysmal disorders panel that also includes the following genes: SLC2A1 CACNA1A PRRT2 KCNMA1 ATP1A2

More info about this panel

DYT10 - Paroxysmal kinesigenic dyskinesia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRRT2 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

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

Migraine Panel Panel

Germany.

By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Paroxysmal Dyskinesia Panel Panel

Germany.

By CeGaT GmbH Paroxysmal Dyskinesia Panel that also includes the following genes: SCN8A SLC2A1 ADCY5 PRRT2 KCNMA1 PNKD

More info about this panel

Paroxysmal Movement Disorders Panel Panel

Germany.

By CeGaT GmbH Paroxysmal Movement Disorders Panel that also includes the following genes: SLC2A1 PRRT2 KCNMA1 PNKD

More info about this panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Single gene testing PRRT2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PRRT2 gene.

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

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

Convulsions, familial infantile with paroxysmal choreoathetosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRRT2 gene.

More info about this panel

Dyskinesia episodic kinesigenic 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRRT2 gene.

More info about this panel

Seizures, benign familial infantile 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRRT2 gene.

More info about this panel

Convulsions, familial infantile with paroxysmal choreoathetosis Panel

Slovakia.

By MedGene

This panel specifically test the PRRT2 gene.

More info about this panel

Dyskinesia episodic kinesigenic 1 Panel

Slovakia.

By MedGene

This panel specifically test the PRRT2 gene.

More info about this panel

Seizures, benign familial infantile 2 Panel

Slovakia.

By MedGene

This panel specifically test the PRRT2 gene.

More info about this panel

Invitae Dystonia Comprehensive Panel Panel

United States.

By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

More info about this panel

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

Paroxysmal kinesigenic dyskinesia: PRRT2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRRT2 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

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

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

Dystonia Dyskinesia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A

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

More info about this panel

PRRT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRRT2 gene.

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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

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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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Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

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Migraine Panel Panel

Finland.

By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG

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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

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Dystonia Panel Panel

Finland.

By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5

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Seizures, benign neonatal, 1 Panel

Spain.

By Bioarray

This panel specifically test the PRRT2 gene.

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Paroxysmal kinesigenic dyskinesia Panel

Spain.

By Bioarray

This panel specifically test the PRRT2 gene.

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PRRT2 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 PRRT2 gene.

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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

More info about this panel

PAROXYSMAL KINESIGENIC DYSKINESIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PRRT2 gene.

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EPISODIC KINESIGENIC DYSKINESIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PRRT2 gene.

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DYSTONIAS (DYT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A

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HEMIPLEGIC MIGRAINE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEMIPLEGIC MIGRAINE NGS PANEL that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2

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Dystonia 10 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the PRRT2 gene.

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Paroxysmal Kinesigenic Dyskinesia , Sequencing PRRT2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRRT2 gene.

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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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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

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