FAME2
MCID: EPL203
MIFTS: 25

Epilepsy, Familial Adult Myoclonic, 2 (FAME2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 2

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 2:

Name: Epilepsy, Familial Adult Myoclonic, 2 58 76
Cortical Myoclonic Tremor with Epilepsy, Familial, 2 58 76
Cortical Myoclonus and Epilepsy, Autosomal Dominant 58 76
Benign Adult Familial Myoclonic Epilepsy 2 58 76
Epilepsy, Familial Adult Myoclonic 2 30 6
Bafme2 58 76
Fcmte2 58 76
Fame2 58 76
Adcme 58 76
Cortical Myoclonic Tremor with Epilepsy, Familial, 2; Fcmte2 58
Cortical Myoclonus and Epilepsy, Autosomal Dominant; Adcme 58
Benign Adult Familial Myoclonic Epilepsy 2; Bafme2 58
Epilepsy, Myoclonic, Benign Adult Familial, Type 2 74
Epilepsy, Myoclonic, Familial Adult, Type 2 41
Epilepsy, Myoclonic, Familial Adult, 2 58
Epilepsy, Myoclonic, Adult Familial, 2 13

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive or slowly progressive
adult onset (range 12 to 59 years, mean age 25)
two families with confirmed adra2b mutations have been reported (last curated june 2015)


HPO:

33
epilepsy, familial adult myoclonic, 2:
Onset and clinical course adult onset nonprogressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Adult Myoclonic, 2

UniProtKB/Swiss-Prot : 76 Epilepsy, familial adult myoclonic, 2: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME2 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 2, also known as cortical myoclonic tremor with epilepsy, familial, 2, is related to perrault syndrome 1 and benign adult familial myoclonic epilepsy, and has symptoms including myoclonus An important gene associated with Epilepsy, Familial Adult Myoclonic, 2 is ADRA2B (Adrenoceptor Alpha 2B). Related phenotypes are intellectual disability and cognitive impairment

OMIM : 58 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 (601068). (607876)

Related Diseases for Epilepsy, Familial Adult Myoclonic, 2

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 2:



Diseases related to Epilepsy, Familial Adult Myoclonic, 2

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 2

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 2:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 cognitive impairment 33 occasional (7.5%) HP:0100543
3 tremor 33 HP:0001337
4 myoclonus 33 HP:0001336
5 generalized tonic-clonic seizures 33 HP:0002069
6 blepharospasm 33 HP:0000643
7 eeg with irregular generalized spike and wave complexes 33 HP:0001326
8 enhancement of the c-reflex 33 HP:0001340
9 jerk-locked premyoclonus spikes 33 HP:0001351
10 eeg with photoparoxysmal response 33 HP:0010852
11 giant somatosensory evoked potentials 33 HP:0001312

Symptoms via clinical synopsis from OMIM:

58
Neurologic:
myoclonus
cognitive impairment (in some patients)
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges
generalized tonic-clonic seizures (gtcs), infrequent
more
Head And Neck Eyes:
eyelid twitching

Clinical features from OMIM:

607876

UMLS symptoms related to Epilepsy, Familial Adult Myoclonic, 2:


myoclonus

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 2

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 2

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 2

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 2:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic 2 30 ADRA2B

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 2

Publications for Epilepsy, Familial Adult Myoclonic, 2

Variations for Epilepsy, Familial Adult Myoclonic, 2

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADRA2B NM_000682.6(ADRA2B): c.675_686delTGGTGGGGCTTTinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) indel Pathogenic rs879255577 GRCh37 Chromosome 2, 96781203: 96781214
2 ADRA2B NM_000682.6(ADRA2B): c.675_686delTGGTGGGGCTTTinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) indel Pathogenic rs879255577 GRCh38 Chromosome 2, 96115464: 96115475

Expression for Epilepsy, Familial Adult Myoclonic, 2

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 2.

Pathways for Epilepsy, Familial Adult Myoclonic, 2

GO Terms for Epilepsy, Familial Adult Myoclonic, 2

Sources for Epilepsy, Familial Adult Myoclonic, 2

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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