Episodic Kinesigenic Dyskinesia 1; Ekd1

Description

Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011).PKC shares some clinical features with benign familial infantile convulsions (BFIC2 ) and infantile convulsions and paroxysmal choreoathetosis (ICCA ), which are allelic disorders.See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (OMIM ), which maps to chromosome 16p12-p11.2. Genetic Heterogeneity of Episodic Kinesigenic DyskinesiaSee also EKD2 (OMIM ), which maps to chromosome 16q13-q22.1.

Clinical Features

Top most frequent phenotypes and symptoms related to Episodic Kinesigenic Dyskinesia 1; Ekd1

  • Seizures
  • Muscle weakness
  • Milia
  • Neoplasm
  • Nevus
  • Tics
  • Dystonia
  • Abnormality of movement
  • Chorea
  • Dyskinesia
And another 15 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Episodic Kinesigenic Dyskinesia 1; Ekd1 have a estimated prevalence of 0.6 per 100k in Europe.


Mendelian

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Episodic Kinesigenic Dyskinesia 1; Ekd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Episodic Ataxia Evaluation.

By Athena Diagnostics Inc in United States.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
50 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATXN1, ATM, MRE11, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, AFG3L2, CACNA1A, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2
Specificity
7 %
Genes
50 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, AFG3L2, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATXN8OS, ATN1, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3, ITPR1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP6V0A2, HPRT1, ADGRV1, PANK2, RAI1, TSC2, SYNGAP1, SMC3, TSC1, NIPBL, PLA2G6, KCNA1, LGI1, KMT2D, MAGI2, KANSL1, ROGDI, PIGA, PIGN, PIGV , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Episodic ataxia/myokymia syndrome.

By Human Genetics Ruhr University in Germany.

KCNA1
Specificity
100 %
Genes
50 %
Episodic Ataxia Type 1.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

KCNA1
Specificity
100 %
Genes
50 %
Episodic Ataxia type 1.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR in Italy.

KCNA1
Specificity
100 %
Genes
50 %
KCNA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNA1
Specificity
100 %
Genes
50 %
KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
50 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 69 more genes
Specificity
3 %
Genes
100 %
Episodic Ataxia Type 1 (sequence analysis of KCNA1 gene).

By CGC Genetics in Portugal.

KCNA1
Specificity
100 %
Genes
50 %
Non-dystrophic myotonias (NGS panel for 11 genes).

By CGC Genetics in Portugal.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3, HINT1, KCNJ18
Specificity
10 %
Genes
50 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

ABHD12, PRKCG, ELOVL4, POLG, AFG3L2, MTPAP, COQ8A, ABCB7, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Episodic ataxia type 1 (deletion/duplication analysis on KCNA1 gene).

By CGC Genetics in Portugal.

KCNA1
Specificity
100 %
Genes
50 %
Episodic ataxia (NGS panel of 4 genes).

By CGC Genetics in Portugal.

KCNA1
Specificity
100 %
Genes
50 %
Episodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes).

By CGC Genetics in Portugal.

CACNA1A, KCNA1
Specificity
50 %
Genes
50 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
50 %
Episodic ataxia (NGS panel of 4 genes).

By CGC Genetics in Portugal.

KCNA1
Specificity
100 %
Genes
50 %
Episodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes).

By CGC Genetics in Portugal.

CACNA1A, KCNA1
Specificity
50 %
Genes
50 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
50 %
Hypomagnesemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1B, SARS2, CASR, SLC12A3, BSND, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
7 %
Genes
50 %
Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

KCNA1
Specificity
100 %
Genes
50 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
KCNA1.

By MGZ Medical Genetics Center in Germany.

KCNA1
Specificity
100 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
100 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center in Germany.

ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
Ataxia (AD/AR) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PRKCG, AFG3L2, FXN, APTX, AR, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP, SETX, KCNA1, KCNC3, PDYN, FGF14
Specificity
7 %
Genes
50 %
Episodic ataxia type 1.

By Centogene AG - the Rare Disease Company in Germany.

KCNA1
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Non-dystrophic myotonia congenita panel.

By Centogene AG - the Rare Disease Company in Germany.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3, HINT1
Specificity
10 %
Genes
50 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
100 %
Episodic Ataxia Panel.

By CeGaT GmbH in Germany.

SLC2A1, CACNA1A, KCNA1, CACNB4, SLC1A3, FGF14, KCNQ2
Specificity
15 %
Genes
50 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH in Germany.

HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Single gene testing KCNA1.

By CeGaT GmbH in Germany.

KCNA1
Specificity
100 %
Genes
50 %
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

PRKCG, ELOVL4, AFG3L2, SPG7, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATN1, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Episodic Ataxia 1, KCNA1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KCNA1
Specificity
100 %
Genes
50 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
2 %
Genes
100 %
Episodic Ataxia 1.

By Praxis fuer Humangenetik Wien in Austria.

KCNA1
Specificity
100 %
Genes
50 %
Episodic Ataxia 1.

By MedGene in Slovakia.

KCNA1
Specificity
100 %
Genes
50 %
Episodic ataxia type 1: KCNA1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KCNA1
Specificity
100 %
Genes
50 %
EPILEPSY HEREDITARY PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
100 %
Episodic ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
50 %
Ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4, SLC1A3, SYT14, ANO10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Non-dystrophic myotonias.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3, HINT1, KCNJ18
Specificity
10 %
Genes
50 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
KCNA1.

By Fulgent Genetics Fulgent Genetics in United States.

KCNA1
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Hypomagnesemia Panel.

By Blueprint Genetics in Finland.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, MAGT1, CNNM4, PCBD1, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF, NIPA2
Specificity
6 %
Genes
50 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
2 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
100 %
Episodic ataxia type 1 & 2.

By Bioarray in Spain.

KCNA1
Specificity
100 %
Genes
50 %
Episodic ataxia type 1.

By Bioarray in Spain.

KCNA1
Specificity
100 %
Genes
50 %
EPISODIC ATAXIA TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

KCNA1
Specificity
100 %
Genes
50 %
HYPOMAGNESEMIA, ISOLATED, GLAUDEMANS TYPE (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

KCNA1
Specificity
100 %
Genes
50 %
Episodic ataxia panel.

By LifeLabs Genetics in Canada.

KCNA1, CACNB4, SLC1A3
Specificity
34 %
Genes
50 %
Episodic Ataxia Type 1, Sequencing KCNA1 Gene.

By Reference Laboratory Genetics in Spain.

KCNA1
Specificity
100 %
Genes
50 %
Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

CACNA1A, KCNA1, CACNB4, SLC1A3
Specificity
25 %
Genes
50 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
100 %
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

CLCN1, CAV3, SCN4A, CACNA1A, ATP2A1, HSPG2, CACNA1S, KCNA1, KCNE3
Specificity
12 %
Genes
50 %
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

HNF1B, SARS2, CASR, SLC12A3, CLCNKB, KCNA1, KCNJ10, PCBD1, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
8 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.

By Athena Diagnostics Inc in United States.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, PRRT2
Specificity
15 %
Genes
50 %
PRRT2 (Dyskinesia/IC) Sequencing Test.

By Athena Diagnostics Inc in United States.

PRRT2
Specificity
100 %
Genes
50 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
Infantile Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, GLDC, AMT, SLC9A6, SUOX, ALDH7A1, MOCS1, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Infantile Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
EpiFirst-Fever.

By Ambry Genetics in United States.

STXBP1, PCDH19, SCN1A, GABRB3, SCN1B, SCN2A, STX1B, HCN1, CHD2, GABRA1, GABRG2, PRRT2, SCN8A
Specificity
8 %
Genes
50 %
EpiFirst-Focal.

By Ambry Genetics in United States.

SCN1A, CHRNB2, CRH, LGI1, SCN1B, KCNT1, CHRNA2, CHRNA4, GRIN2A, DEPDC5, PRRT2
Specificity
10 %
Genes
50 %
EpilepsyNext.

By Ambry Genetics in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
EpiRapid.

By Ambry Genetics in United States.

POLG, MECP2, STXBP1, ALDH7A1, PCDH19, SLC2A1, TSC2, TSC1, SCN1A, FOLR1, KCNT1, KCNQ2, KCNQ3, PNPO, PRRT2, SCN8A
Specificity
7 %
Genes
50 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
Familial Hemiplegic Migraine Panel.

By Ambry Genetics in United States.

SCN1A, CACNA1A, ATP1A2, PRRT2
Specificity
25 %
Genes
50 %
PRRT2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PRRT2
Specificity
100 %
Genes
50 %
PRRT2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PRRT2
Specificity
100 %
Genes
50 %
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN2A, PRRT2
Specificity
50 %
Genes
50 %
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNQ2, PRRT2
Specificity
50 %
Genes
50 %
Episodic kinesigenic dyskinesia 1 (sequence analysis of PRRT2 gene).

By CGC Genetics in Portugal.

PRRT2
Specificity
100 %
Genes
50 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene).

By CGC Genetics in Portugal.

PRRT2
Specificity
100 %
Genes
50 %
Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene).

By CGC Genetics in Portugal.

PRRT2
Specificity
100 %
Genes
50 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADSL, POLG, MECP2, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Hemiplegic Migraine and PRRT2-Related Disorders via PRRT2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRRT2
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
50 %
Familial Hemiplegic Migraine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCN1A, CACNA1A, ATP1A2, PRRT2
Specificity
25 %
Genes
50 %
Dystonia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TAF1, TUBB4A, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Familial Paroxysmal Kinesigenic Dyskinesia.

By MGZ Medical Genetics Center in Germany.

PRRT2
Specificity
100 %
Genes
50 %
Benign Familial Infantile Seizures 2.

By MGZ Medical Genetics Center in Germany.

PRRT2
Specificity
100 %
Genes
50 %
Familial Infantile Convulsions with Paroxysmal Choreoathetosis.

By MGZ Medical Genetics Center in Germany.

PRRT2
Specificity
100 %
Genes
50 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS).

By MGZ Medical Genetics Center in Germany.

SCN2A, KCNQ2, KCNQ3, PRRT2
Specificity
25 %
Genes
50 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
50 %
Benign neonatal/infantile convulsions panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SCN2A, KCNQ2, KCNQ3, TBC1D24, PRRT2
Specificity
20 %
Genes
50 %
Epilepsy with paroxysmal disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SLC2A1, CACNA1A, ATP1A2, KCNMA1, PRRT2
Specificity
20 %
Genes
50 %
DYT10 - Paroxysmal kinesigenic dyskinesia.

By Centogene AG - the Rare Disease Company in Germany.

PRRT2
Specificity
100 %
Genes
50 %
Migraine Panel.

By CeGaT GmbH in Germany.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18
Specificity
10 %
Genes
50 %
Paroxysmal Dyskinesia Panel.

By CeGaT GmbH in Germany.

PNKD, SLC2A1, KCNMA1, PRRT2, SCN8A, ADCY5
Specificity
17 %
Genes
50 %
Paroxysmal Movement Disorders Panel.

By CeGaT GmbH in Germany.

PNKD, SLC2A1, KCNMA1, PRRT2
Specificity
25 %
Genes
50 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Single gene testing PRRT2.

By CeGaT GmbH in Germany.

PRRT2
Specificity
100 %
Genes
50 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Convulsions, familial infantile with paroxysmal choreoathetosis.

By Praxis fuer Humangenetik Wien in Austria.

PRRT2
Specificity
100 %
Genes
50 %
Dyskinesia episodic kinesigenic 1.

By Praxis fuer Humangenetik Wien in Austria.

PRRT2
Specificity
100 %
Genes
50 %
Seizures, benign familial infantile 2.

By Praxis fuer Humangenetik Wien in Austria.

PRRT2
Specificity
100 %
Genes
50 %
Convulsions, familial infantile with paroxysmal choreoathetosis.

By MedGene in Slovakia.

PRRT2
Specificity
100 %
Genes
50 %
Dyskinesia episodic kinesigenic 1.

By MedGene in Slovakia.

PRRT2
Specificity
100 %
Genes
50 %
Seizures, benign familial infantile 2.

By MedGene in Slovakia.

PRRT2
Specificity
100 %
Genes
50 %
Invitae Dystonia Comprehensive Panel.

By Invitae in United States.

SPR, PRKN, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TUBB4A, SLC6A3, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
50 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
50 %
Paroxysmal kinesigenic dyskinesia: PRRT2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRRT2
Specificity
100 %
Genes
50 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
50 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Dystonia Dyskinesia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SCP2, SPR, PNKD, TOR1A, THAP1, SGCE, ATP1A3, PRRT2, TAF1, DRD5, MR1, DRD2, SLC6A3, PRKRA
Specificity
8 %
Genes
50 %
PRRT2.

By Fulgent Genetics Fulgent Genetics in United States.

PRRT2
Specificity
100 %
Genes
50 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, STXBP1, SLC25A22, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CHRNB2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
50 %
Migraine Panel.

By Blueprint Genetics in Finland.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18
Specificity
10 %
Genes
50 %
Dystonia Panel.

By Blueprint Genetics in Finland.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5
Specificity
5 %
Genes
50 %
Seizures, benign neonatal, 1.

By Bioarray in Spain.

PRRT2
Specificity
100 %
Genes
50 %
Paroxysmal kinesigenic dyskinesia.

By Bioarray in Spain.

PRRT2
Specificity
100 %
Genes
50 %
PRRT2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PRRT2
Specificity
100 %
Genes
50 %
BENIGN FAMILIAL INFANTILE EPILEPSY.

By Laboratorio de Genetica Clinica SL in Spain.

SCN2A, KCNQ2, KCNQ3, PRRT2
Specificity
25 %
Genes
50 %
PAROXYSMAL KINESIGENIC DYSKINESIA.

By Laboratorio de Genetica Clinica SL in Spain.

PRRT2
Specificity
100 %
Genes
50 %
Dystonia 10.

By LifeLabs Genetics in Canada.

PRRT2
Specificity
100 %
Genes
50 %
Paroxysmal Kinesigenic Dyskinesia , Sequencing PRRT2 Gene.

By Reference Laboratory Genetics in Spain.

PRRT2
Specificity
100 %
Genes
50 %
Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

SCN2A, KCNQ2, KCNQ3, PRRT2
Specificity
25 %
Genes
50 %

Alternate names

Episodic Kinesigenic Dyskinesia 1; Ekd1 Is also known as paroxysmal kinesigenic choreoathetosis;pkc, paroxysmal kinesigenic dyskinesia;pkd, dystonia, familial paroxysmal, dystonia 10;dyt10;familial pkd; familial paroxysmal kinesigenic dyskinesia; paroxysmal kinesigenic choreathetosis.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 OVARIAN DYSGENESIS 2; ODG2 HYPERTHYROIDISM, NONAUTOIMMUNE SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 HERMANSKY-PUDLAK SYNDROME 2; HPS2 ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE

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