Progressive Myoclonic Epilepsy Type 8

Description

A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.

Clinical Features

Phenotypes and symptoms related to Progressive Myoclonic Epilepsy Type 8

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Dementia
  • Myoclonus
  • Generalized tonic-clonic seizures
  • Atrophy/Degeneration affecting the brainstem

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Progressive Myoclonic Epilepsy Type 8 Is also known as epm8, pme type 8, progressive myoclonic epilepsy due to cers1 deficiency, progressive myoclonus epilepsy type 8.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Progressive Myoclonic Epilepsy Type 8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Progressive myoclonus epilepsy type 8.

By Centogene AG - the Rare Disease Company (Germany).

CERS1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC (Estonia).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
NCL and Progressive Myoclonic Epilepsy Panel.

By Blueprint Genetics (Finland).

CERS1, DNAJC5, SCARB2, PRICKLE1, TPP1, CLN3, CLN5, CLN6, CLN8, FARS2, NHLRC1, BRAT1, KCTD7, CSTB, CTSD, CTSF, MFSD8, TBC1D24, ATP13A2, AFG3L2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SCN1A, SCN1B, SCN2A, SCN9A, SGCE, SLC6A1, STXBP1, CACNB4, CERS1, PCDH19, ARHGEF9, EFHC1, SCARB2, PRICKLE1, ADGRV1, ARX, STX1B, CHD2, CLCN2, PRICKLE2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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