FAME1
MCID: EPL201
MIFTS: 29

Epilepsy, Familial Adult Myoclonic, 1 (FAME1)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 1

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 1:

Name: Epilepsy, Familial Adult Myoclonic, 1 56 73 29 6 71
Benign Adult Familial Myoclonic Epilepsy 1 56 12 73
Bafme1 56 12 73
Fcmte1 56 12 73
Fame1 56 12 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 1 56 73
Familial Adult Myoclonic Epilepsy 1 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 1; Fcmte1 56
Benign Adult Familial Myoclonic Epilepsy 1; Bafme1 56
Familial Cortical Myoclonic Tremor and Epilepsy 1 12
Epilepsy, Myoclonic, Familial Adult, Type 1 39
Epilepsy, Myoclonic, Adult Familial, 1 13

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
childhood onset has been reported
adult onset (mean age 37 years)
nonprogressive course
tremor may be elicited by movement or postural maintenance
tremor is aggravated by emotional stress
clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
some patients may have a homozygous mutation, which is associated with a more severe phenotype with earlier onset
high frequency in the chinese and japanese populations


HPO:

31
epilepsy, familial adult myoclonic, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course adult onset nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111690
OMIM 56 601068
OMIM Phenotypic Series 56 PS601068
MeSH 43 D004831
MedGen 41 C1832841
UMLS 71 C1832841

Summaries for Epilepsy, Familial Adult Myoclonic, 1

UniProtKB/Swiss-Prot : 73 Epilepsy, familial adult myoclonic, 1: 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. FAME1 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 1, also known as benign adult familial myoclonic epilepsy 1, is related to epilepsy, familial adult myoclonic, 3 and epilepsy, familial adult myoclonic, 2. An important gene associated with Epilepsy, Familial Adult Myoclonic, 1 is SAMD12 (Sterile Alpha Motif Domain Containing 12). Related phenotypes are intellectual disability and tremor

Disease Ontology : 12 A familial adult myoclonic epilepsy that has material basis in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12.

OMIM : 56 Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by Cen et al., 2018). (601068)

Related Diseases for Epilepsy, Familial Adult Myoclonic, 1

Diseases in the Epilepsy, Myoclonic Juvenile family:

Epilepsy, Familial Adult Myoclonic, 1 Myoclonic Epilepsy, Familial Infantile
Epilepsy, Familial Adult Myoclonic, 2 Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4 Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Progressive Myoclonic, 6
Epilepsy, Juvenile Myoclonic 9 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9
Epilepsy, Progressive Myoclonic, 10 Epilepsy, Juvenile Myoclonic 10
Epilepsy, Familial Adult Myoclonic, 6 Epilepsy, Familial Adult Myoclonic, 7
Epilepsy, Progressive Myoclonic, 11 Familial Adult Myoclonic Epilepsy
Epilepsy Progressive Myoclonic Type 3 Myoclonic Epilepsy of Infancy

Diseases related to Epilepsy, Familial Adult Myoclonic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial adult myoclonic, 3 31.4 SAMD12 MARCHF6 CTNND2
2 epilepsy, familial adult myoclonic, 2 29.7 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1
3 familial adult myoclonic epilepsy 28.1 YEATS2 TNRC6A STARD7 SAMD12 RAPGEF2 MARCHF6
4 myoclonus 10.1
5 adolescence-adult electroclinical syndrome 9.7 SAMD12 RAPGEF2 DAB1
6 epilepsy, familial adult myoclonic, 4 9.7 YEATS2 CTNND2
7 spinocerebellar ataxia 37 9.7 YEATS2 SAMD12 DAB1
8 cri-du-chat syndrome 9.6 MARCHF6 CTNND2
9 epilepsy 9.0 YEATS2 TNRC6A SAMD12 RAPGEF2 MARCHF6
10 epilepsy, familial adult myoclonic, 7 8.5 YEATS2 TNRC6A STARD7 SAMD12 RAPGEF2 MARCHF6
11 epilepsy, familial adult myoclonic, 6 8.5 YEATS2 TNRC6A STARD7 SAMD12 RAPGEF2 MARCHF6

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 1:



Diseases related to Epilepsy, Familial Adult Myoclonic, 1

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 1

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 tremor 31 HP:0001337
3 eeg with irregular generalized spike and wave complexes 31 HP:0001326
4 giant somatosensory evoked potentials 31 HP:0001312
5 bilateral tonic-clonic seizure 31 HP:0002069
6 eeg with photoparoxysmal response 31 HP:0010852
7 generalized myoclonic seizure 31 HP:0002123
8 enhancement of the c-reflex 31 HP:0001340
9 jerk-locked premyoclonus spikes 31 HP:0001351

Symptoms via clinical synopsis from OMIM:

56
Neurologic:
enhancement of the c-reflex
jerk-locked premyoclonus spikes
mental retardation has been reported
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges
more

Clinical features from OMIM:

601068

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 1

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 1

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 1:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic, 1 29 SAMD12

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 1

Publications for Epilepsy, Familial Adult Myoclonic, 1

Articles related to Epilepsy, Familial Adult Myoclonic, 1:

(show all 16)
# Title Authors PMID Year
1
Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. 6 56
29939203 2018
2
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 6 56
29507423 2018
3
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. 61 56
21850007 2011
4
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 56 61
20548044 2010
5
Re: Fame 3: a novel form of progressive myoclonus and epilepsy. 56
18166714 2008
6
FAME 3: a novel form of progressive myoclonus and epilepsy. 56
17452583 2007
7
Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. 56
15747356 2005
8
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. 56
10522869 1999
9
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. 56
10441581 1999
10
Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity? 56
9865802 1998
11
Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus. 56
9159732 1997
12
Familial benign myoclonus epilepsy of adult onset: a previously unrecognized myoclonic disorder. 56
9073039 1997
13
Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. 56
8825056 1996
14
Cortical tremor: a variant of cortical reflex myoclonus. 56
2215948 1990
15
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. 61
32203200 2020
16
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. 61
31664039 2019

Variations for Epilepsy, Familial Adult Myoclonic, 1

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 1:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SAMD12 SAMD12, 5-BP INS, TTTCA(n), IVS4insertion Pathogenic 560216
2 SAMD12 NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]NT expansion Pathogenic 800660 8:119379055-119379157

Expression for Epilepsy, Familial Adult Myoclonic, 1

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 1.

Pathways for Epilepsy, Familial Adult Myoclonic, 1

GO Terms for Epilepsy, Familial Adult Myoclonic, 1

Biological processes related to Epilepsy, Familial Adult Myoclonic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase activity GO:0045860 8.62 RAPGEF2 DAB1

Sources for Epilepsy, Familial Adult Myoclonic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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