MCID: EPL203
MIFTS: 24

Epilepsy, Familial Adult Myoclonic, 2

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 2

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

Name: Epilepsy, Familial Adult Myoclonic, 2 57 75
Cortical Myoclonic Tremor with Epilepsy, Familial, 2 57 75
Cortical Myoclonus and Epilepsy, Autosomal Dominant 57 75
Benign Adult Familial Myoclonic Epilepsy 2 57 75
Epilepsy, Familial Adult Myoclonic 2 29 6
Bafme2 57 75
Fcmte2 57 75
Fame2 57 75
Adcme 57 75
Cortical Myoclonic Tremor with Epilepsy, Familial, 2; Fcmte2 57
Cortical Myoclonus and Epilepsy, Autosomal Dominant; Adcme 57
Benign Adult Familial Myoclonic Epilepsy 2; Bafme2 57
Epilepsy, Myoclonic, Benign Adult Familial, Type 2 73
Epilepsy, Myoclonic, Familial Adult, Type 2 40
Epilepsy, Myoclonic, Familial Adult, 2 57
Epilepsy, Myoclonic, Adult Familial, 2 13

Characteristics:

OMIM:

57
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:

32
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 : 75 Epilepsy, familial adult myoclonic, 2: A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. 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; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment.

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

OMIM : 57 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

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 2

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 blepharospasm 32 HP:0000643
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 giant somatosensory evoked potentials 32 HP:0001312
4 eeg with irregular generalized spike and wave complexes 32 HP:0001326
5 myoclonus 32 HP:0001336
6 tremor 32 HP:0001337
7 enhancement of the c-reflex 32 HP:0001340
8 jerk-locked premyoclonus spikes 32 HP:0001351
9 generalized tonic-clonic seizures 32 HP:0002069
10 eeg with photoparoxysmal response 32 HP:0010852
11 cognitive impairment 32 occasional (7.5%) HP:0100543

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 29 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

3 CDC
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17 ExPASy
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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