Myoclonic Epilepsy Of Unverricht And Lundborg

Description

Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that is appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline (summary by Ramachandran et al., 2009). Genetic Heterogeneity of Progressive Myoclonic EpilepsyProgressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. See also EPM1B (OMIM ), caused by mutation in the PRICKLE1 gene (OMIM ); Lafora disease (EPM2A/B; {254780}), caused by mutation in either the EPM2A (OMIM ) or the NHLRC1 (OMIM ) gene; EPM3 (OMIM ), caused by mutation in the KCTD7 gene (611725); EPM4 (OMIM ), caused by mutation in the SCARB2 gene (OMIM ); EPM6 (OMIM ), caused by mutation in the GOSR2 gene (OMIM ); EPM7 (OMIM ), caused by mutation in the KCNC1 gene (OMIM ); EPM8 (OMIM ), caused by mutation in the CERS1 gene (OMIM ); EPM9 (OMIM ), caused by mutation in the LMNB2 gene (OMIM ); and EPM10 (OMIM ), caused by mutation in the PRDM8 gene (OMIM ).A form of progressive myoclonic epilepsy, formerly designated EPM5, is included in {607459} with the primary designation of spinocerebellar ataxia with epilepsy (SCAE).Other disorders characterized by progressive myoclonic epilepsy include the neuronal ceroid lipofuscinoses (see, e.g., CLN1 (OMIM ); sialidosis (OMIM ); MERFF (OMIM ); and DRPLA (OMIM ), among others (reviews by Ramachandran et al., 2009 and Mendonca de Siqueira, 2010).)

Clinical Features

Top most frequent phenotypes and symptoms related to Myoclonic Epilepsy Of Unverricht And Lundborg

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral atrophy
  • Myoclonus
  • Dementia
  • Mental deterioration
And another 12 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Myoclonic Epilepsy Of Unverricht And Lundborg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EPM1 (Unverricht-Lundborg) DNA Test.

By Athena Diagnostics Inc in United States.

CSTB
Specificity
100 %
Genes
34 %
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
4 %
Genes
100 %
CSTB (EPM1) Sequencing and Repeat Expansion Evaluation.

By Athena Diagnostics Inc in United States.

CSTB
Specificity
100 %
Genes
34 %
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
2 %
Genes
100 %
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
3 %
Genes
100 %
Childhood Epilepsy.

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

UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, FOXG1, MEF2C, SLC2A1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A , (...)

View the complete list with 27 more genes
Specificity
5 %
Genes
67 %
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
4 %
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 %
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
3 %
Genes
67 %
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
5 %
Genes
100 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, CLN6, CLN8, PPT1, CLN5 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
67 %
Progressive Myoclonic Epilepsy Panel.

By GeneDx in United States.

CTSD, TPP1, CLN3, CLN6, CLN8, PPT1, CLN5, CSTB, GOSR2, NHLRC1, KCTD7, PRICKLE1, FOLR1, EPM2A, SCARB2, DNAJC5, MFSD8
Specificity
18 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
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
3 %
Genes
100 %
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
3 %
Genes
100 %
CSTB. Complete sequencing.

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

CSTB
Specificity
100 %
Genes
34 %
Rapid Epilepsy Seq Analysis.

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

POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A
Specificity
6 %
Genes
34 %
Rapid Epilepsy Seq + Del/Dup Panel.

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

POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A
Specificity
6 %
Genes
34 %
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
4 %
Genes
100 %
Rapid Epilepsy Del/Dup Panel.

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

POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A
Specificity
6 %
Genes
34 %
Unverricht-Lundborg disease (sequence analysis of CSTB gene).

By CGC Genetics in Portugal.

CSTB
Specificity
100 %
Genes
34 %
Unverricht-Lundborg disease (detection of expansion on CSTB gene).

By CGC Genetics in Portugal.

CSTB
Specificity
100 %
Genes
34 %
Unverricht-Lundborg Disease.

By Laboratory of Genetics HUSLAB in Finland.

CSTB
Specificity
100 %
Genes
34 %
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
3 %
Genes
67 %
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
2 %
Genes
100 %
Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene.

By PreventionGenetics PreventionGenetics in United States.

CSTB
Specificity
100 %
Genes
34 %
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
2 %
Genes
100 %
Unverricht-Lundborg Disease.

By MGZ Medical Genetics Center in Germany.

CSTB
Specificity
100 %
Genes
34 %
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 %
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
4 %
Genes
100 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

POLG, GLDC, HEXA, HEXB, TPP1, CLN3, NPC1, NPC2, CLN6, PPT1, CLN5, CSTB, SGCE, CASR, CACNB4, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1 , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
Progressive myoclonic epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CSTB, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, EPM2A, SCARB2, ASAH1
Specificity
38 %
Genes
100 %
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
CSTB.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

CSTB
Specificity
100 %
Genes
34 %
Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel.

By CeGaT GmbH in Germany.

AFG3L2, CTSD, GRN, TPP1, CLN3, CLN6, CLN8, PPT1, CLN5, CSTB, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, EPM2A, SCARB2, ASAH1, CTSF, DNAJC5 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
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
67 %
Single gene testing CSTB.

By CeGaT GmbH in Germany.

CSTB
Specificity
100 %
Genes
34 %
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
3 %
Genes
100 %
Epilepsy of Unverricht and Lundborg.

By Praxis fuer Humangenetik Wien in Austria.

CSTB
Specificity
100 %
Genes
34 %
Epilepsy of Unverricht and Lundborg.

By MedGene in Slovakia.

CSTB
Specificity
100 %
Genes
34 %
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
3 %
Genes
100 %
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
3 %
Genes
100 %
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
2 %
Genes
100 %
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
3 %
Genes
100 %
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 %
CSTB.

By Fulgent Genetics Fulgent Genetics in United States.

CSTB
Specificity
100 %
Genes
34 %
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
4 %
Genes
100 %
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
3 %
Genes
100 %
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 %
NCL and Progressive Myoclonic Epilepsy Panel.

By Blueprint Genetics in Finland.

POLG, AFG3L2, CTSD, GRN, TPP1, CLN3, FARS2, CLN6, CLN8, PPT1, CLN5, CSTB, GOSR2, NHLRC1, KCTD7, PRICKLE1, FOLR1, GABRB2, KCNC1, EPM2A , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
100 %
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
1 %
Genes
34 %
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
2 %
Genes
100 %
Unverricht-Lundborg disease.

By Bioarray in Spain.

CSTB
Specificity
100 %
Genes
34 %
UNVERRICHT- LUNDBORG SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CSTB
Specificity
100 %
Genes
34 %
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 1A (UNVERRICHT- LUNDBORG(SYNDROME ).

By Laboratorio de Genetica Clinica SL in Spain.

CSTB
Specificity
100 %
Genes
34 %
Unverricht-Lundborg Disease, Sequencing CSTB Gene.

By Reference Laboratory Genetics in Spain.

CSTB
Specificity
100 %
Genes
34 %
Epilepsy, progressive myoclonic 1B (sequence analysis of PRICKLE1 gene).

By CGC Genetics in Portugal.

PRICKLE1
Specificity
100 %
Genes
34 %
PRICKLE1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PRICKLE1
Specificity
100 %
Genes
34 %
Single gene testing PRICKLE1.

By CeGaT GmbH in Germany.

PRICKLE1
Specificity
100 %
Genes
34 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, HEXA, HEXB, FXN, APTX, TPP1, WWOX, ATM, MRE11, SACS, TTPA, PLA2G6, SETX, SYNE1, SYT14, ANO10 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
34 %
PRICKLE1.

By Fulgent Genetics Fulgent Genetics in United States.

PRICKLE1
Specificity
100 %
Genes
34 %
PROGRESSIVE MYOCLONIC EPILEPSY WITH ATAXIA (TYPE 1B).

By Laboratorio de Genetica Clinica SL in Spain.

PRICKLE1
Specificity
100 %
Genes
34 %
Progressive Myoclonic Epilepsy Type 1B , Sequencing PRICKLE1 Gene.

By Reference Laboratory Genetics in Spain.

PRICKLE1
Specificity
100 %
Genes
34 %
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRICKLE1
Specificity
100 %
Genes
34 %
Epilepsy, progressive myoclonic 4, with or without renal failure (sequence analysis of SCARB2 gene).

By CGC Genetics in Portugal.

SCARB2
Specificity
100 %
Genes
34 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
34 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
34 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 Gene.

By PreventionGenetics PreventionGenetics in United States.

SCARB2
Specificity
100 %
Genes
34 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
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
34 %
Myoclonic kidney failure syndrome: SCARB2 gene sequence analysis.

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

SCARB2
Specificity
100 %
Genes
34 %
SCARB2.

By Fulgent Genetics Fulgent Genetics in United States.

SCARB2
Specificity
100 %
Genes
34 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
34 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
34 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MYH9, MEFV, CD2AP , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
PROGRESSIVE MYOCLONIC EPILEPSY WITH RENAL FAILURE (TYPE 4).

By Laboratorio de Genetica Clinica SL in Spain.

SCARB2
Specificity
100 %
Genes
34 %
Progressive Myoclonic Epilepsy Type 4 with or without Renal Failure , Sequencing SCARB2 Gene.

By Reference Laboratory Genetics in Spain.

SCARB2
Specificity
100 %
Genes
34 %

Alternate names

Myoclonic Epilepsy Of Unverricht And Lundborg Is also known as uld, epilepsy, progressive myoclonic, 1a;epm1a, epilepsy, progressive myoclonic, 1;epm1, progressive myoclonic epilepsy;pme, baltic myoclonic epilepsy;pme type 1; progressive myoclonic epilepsy type 1; progressive myoclonus epilepsy type 1; uld.


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