Epilepsy, Familial Adult Myoclonic, 2; Fame2

Description

Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Epilepsy, Familial Adult Myoclonic, 2; Fame2

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Myoclonus
  • Intellectual disability, moderate
  • Mental deterioration
  • Generalized tonic-clonic seizures

And another 10 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.
No data available about the known clinical features onset.

Alternative names

Epilepsy, Familial Adult Myoclonic, 2; Fame2 Is also known as adcme, bafme2, cortical myoclonic tremor with epilepsy, familial, 2, benign adult familial myoclonic epilepsy 2, cortical myoclonus and epilepsy, autosomal dominant, fcmte2.

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, 2; Fame2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
ADRA2B.

By Fulgent Genetics Fulgent Genetics (United States).

ADRA2B
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 -5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 HYPERPARATHYROIDISM 1; HRPT1

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