Epilepsy, Familial Adult Myoclonic, 2; Fame2
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 ).
Genes related to Epilepsy, Familial Adult Myoclonic, 2; Fame2
Clinical FeaturesTop most frequent phenotypes and symptoms related to Epilepsy, Familial Adult Myoclonic, 2; Fame2
- Intellectual disability
- Cognitive impairment
- 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.
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.
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 researchersCurrently, 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.
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
By Fulgent Genetics Fulgent Genetics (United States).
Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes.
By Reference Laboratory Genetics (Spain).
You can get up to -5 more panels with our dedicated toolLearn more
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 WOLFRAM SYNDROME 2; WFS2 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4 MYOPATHY, CENTRONUCLEAR, 4; CNM4 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE CHROMOSOME 15q14 DELETION SYNDROME