FAME3
MCID: EPL053
MIFTS: 19

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 57 72
Epilepsy, Myoclonic, Familial Adult, 3 57 13
Cortical Myoclonic Tremor with Epilepsy, Familial, 3; Fcmte3 57
Cortical Myoclonic Tremor with Epilepsy, Familial, 3 57
Epilepsy, Myoclonic, Familial Adult, Type 3 40
Fcmte3 57
Fame3 57

Characteristics:

OMIM:

57
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

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

MedGen 42 C3150860
UMLS 72 C3150860

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 myoclonic epilepsy of unverricht and lundborg. An important gene associated with Epilepsy, Familial Adult Myoclonic, 3 is FAME3 (Epilepsy, Familial Adult Myoclonic, 3). Related phenotypes are tremor and myoclonus

More information from OMIM: 613608 PS601068

Related Diseases for Epilepsy, Familial Adult Myoclonic, 3

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 3:



Diseases related to Epilepsy, Familial Adult Myoclonic, 3

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 3

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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
enhancement of the c-reflex
jerk-locked premyoclonus spikes
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
more

Clinical features from OMIM:

613608

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 3

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

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 3

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 3

Publications for Epilepsy, Familial Adult Myoclonic, 3

Articles related to Epilepsy, Familial Adult Myoclonic, 3:

# Title Authors PMID Year
1
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 8
20548044 2010
2
Fractional flow reserve in 2017: current data and everyday practice. 38
28475383 2017
3
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. 38
21850007 2011
4
A comparative clinical assessment of combination chemotherapy in the management of advanced gastric carcinoma: The Gastrointestinal Tumor study Group. 38
7037163 1982

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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