MCID: EPL053
MIFTS: 21

Epilepsy, Familial Adult Myoclonic, 3

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 3

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 3:

Name: Epilepsy, Familial Adult Myoclonic, 3 57 73
Epilepsy, Myoclonic, Familial Adult, 3 57 13
Cortical Myoclonic Tremor with Epilepsy, Familial, 3; Fcmte3 57
Cortical Myoclonic Tremor with Epilepsy, Familial, 3 57
Fcmte3 57
Fame3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
childhood onset has been reported
nonprogressive course
tremor may be elicited by movement or postural maintenance
anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
tremor is aggravated by low glucose or light


HPO:

32
epilepsy, familial adult myoclonic, 3:
Onset and clinical course adult onset childhood onset nonprogressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Adult Myoclonic, 3

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 3, also known as epilepsy, myoclonic, familial adult, 3, is related to benign adult familial myoclonic epilepsy and epilepsy. An important gene associated with Epilepsy, Familial Adult Myoclonic, 3 is FAME3 (Epilepsy, Familial Adult Myoclonic, 3). Related phenotypes are giant somatosensory evoked potentials and myoclonus

Description from OMIM: 613608

Related Diseases for Epilepsy, Familial Adult Myoclonic, 3

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges
photoparoxysmal response on eeg
electrophysiologic studies indicate cortical origin
enhancement of the c-reflex
more

Clinical features from OMIM:

613608

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 3:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 giant somatosensory evoked potentials 32 HP:0001312
2 myoclonus 32 HP:0001336
3 tremor 32 HP:0001337
4 enhancement of the c-reflex 32 HP:0001340
5 jerk-locked premyoclonus spikes 32 HP:0001351
6 generalized tonic-clonic seizures 32 HP:0002069
7 difficulty walking 32 HP:0002355
8 focal seizures 32 HP:0007359
9 eeg with photoparoxysmal response 32 HP:0010852

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Comparison of Fractional Flow Reserve-Guided Percutaneous Coronary Intervention and Coronary Artery Bypass Graft Surgery in Patients With Multivessel Coronary Artery Disease Recruiting NCT02100722 Phase 4

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Anatomical Context for Epilepsy, Familial Adult Myoclonic, 3

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Variations for Epilepsy, Familial Adult Myoclonic, 3

Expression for Epilepsy, Familial Adult Myoclonic, 3

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 3.

Pathways for Epilepsy, Familial Adult Myoclonic, 3

GO Terms for Epilepsy, Familial Adult Myoclonic, 3

Sources for Epilepsy, Familial Adult Myoclonic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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