FAME3
MCID: EPL053
MIFTS: 22

Epilepsy, Familial Adult Myoclonic, 3 (FAME3)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 3

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

Name: Epilepsy, Familial Adult Myoclonic, 3 58 74
Epilepsy, Myoclonic, Familial Adult, 3 58 13
Cortical Myoclonic Tremor with Epilepsy, Familial, 3; Fcmte3 58
Cortical Myoclonic Tremor with Epilepsy, Familial, 3 58
Fcmte3 58
Fame3 58

Characteristics:

OMIM:

58
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:

33
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 tremor and myoclonus

Description from OMIM: 613608

Related Diseases for Epilepsy, Familial Adult Myoclonic, 3

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 3

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 tremor 33 HP:0001337
2 myoclonus 33 HP:0001336
3 generalized tonic-clonic seizures 33 HP:0002069
4 difficulty walking 33 HP:0002355
5 enhancement of the c-reflex 33 HP:0001340
6 jerk-locked premyoclonus spikes 33 HP:0001351
7 focal-onset seizure 33 HP:0007359
8 eeg with photoparoxysmal response 33 HP:0010852
9 giant somatosensory evoked potentials 33 HP:0001312

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges
generalized and focal spike and wave complexes seen on eeg
photoparoxysmal response on eeg
electrophysiologic studies indicate cortical origin
more

Clinical features from OMIM:

613608

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

Search NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 3

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Anatomical Context for Epilepsy, Familial Adult Myoclonic, 3

Publications for Epilepsy, Familial Adult Myoclonic, 3

Variations for Epilepsy, Familial Adult Myoclonic, 3

Expression for Epilepsy, Familial Adult Myoclonic, 3

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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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
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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