Epilepsy, Familial Adult Myoclonic, 1; Fame1

Description

Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). Genetic Heterogeneity of Familial Adult Myoclonic EpilepsyFAME1 maps to chromosome 8q24; FAME2 (OMIM ) is caused by mutation in the ADRA2B gene (OMIM ) on chromosome 2q11; FAME3 (OMIM ) maps to chromosome 5p15; FAME4 (OMIM ) maps to chromosome 3q26.32-q28; and FAME5 (OMIM ) is caused by mutation in the CNTN2 gene (OMIM ) on chromosome 1q32.Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, {254800}).

Clinical Features

Top most frequent phenotypes and symptoms related to Epilepsy, Familial Adult Myoclonic, 1; Fame1

  • Intellectual disability
  • Seizures
  • Ataxia
  • Tremor
  • Myoclonus
  • Dementia
  • Headache
  • EEG abnormality
  • Focal seizures
  • Generalized myoclonic seizures
And another 9 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.


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Epilepsy, Familial Adult Myoclonic, 1; Fame1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
34 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics in Finland.

PTEN, MECP2, GAMT, DHCR7, TSC2, TSC1, NSD1, SHANK3, PTCHD1, ADNP, FOXP1, CACNA1C, NLGN4X, NLGN3, RPL10, CC2D1A, POGZ, BCL11A, TRIP12, CTNND2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
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
34 %
ADRA2B.

By Fulgent Genetics Fulgent Genetics in United States.

ADRA2B
Specificity
100 %
Genes
34 %
Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes.

By Reference Laboratory Genetics in Spain.

CNTN2, ADRA2B
Specificity
100 %
Genes
67 %
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
34 %
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
3 %
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
2 %
Genes
34 %
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
34 %
CNTN2.

By Fulgent Genetics Fulgent Genetics in United States.

CNTN2
Specificity
100 %
Genes
34 %

Alternate names

Epilepsy, Familial Adult Myoclonic, 1; Fame1 Is also known as benign adult familial myoclonic epilepsy 1;bafme1, cortical myoclonic tremor with epilepsy, familial, 1;fcmte1;adcme; autosomal dominant cortical myoclonus and epilepsy; bafme; benign adult familial myoclonus epilepsy; fame; fcmte; familial adult myoclonic epilepsy; familial cortical myoclonic tremor and epilepsy.



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