Epilepsy, Familial Adult Myoclonic, 5; Fame5

Description

Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013).

Clinical Features

Phenotypes and symptoms related to Epilepsy, Familial Adult Myoclonic, 5; Fame5

  • Seizures
  • Tremor
  • Myoclonus
  • Generalized tonic-clonic seizures
  • Focal-onset seizure
  • Generalized-onset seizure
  • Focal impaired awareness seizure
  • Muscle fibrillation
  • Focal sensory seizure

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

Epilepsy, Familial Adult Myoclonic, 5; Fame5 Is also known as fcmte5, cortical myoclonic tremor with epilepsy, familial, 5.

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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Epilepsy, Familial Adult Myoclonic, 5; Fame5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH (Germany).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC1A3, SLC2A1, CACNA1A, CACNA1H, CACNB4, CASR, EFHC1, UBR5, NIPA2, CPA6, RBFOX1, DEPDC5, STX1B, KCNT1, CHRNA2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4, UBE3A, CNTNAP2, CACNA1A, CACNA1H, CACNB4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BCS1L, RYR3, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SGSH, SHH, ST3GAL3, ST3GAL5, STIL , (...)

View the complete list with 426 more genes
Specificity
1 %
Genes
100 %
CNTN2.

By Fulgent Genetics Fulgent Genetics (United States).

CNTN2
Specificity
100 %
Genes
100 %
Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes.

By Reference Laboratory Genetics (Spain).

CNTN2, ADRA2B
Specificity
50 %
Genes
100 %

We have -2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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