FAME2
MCID: EPL203
MIFTS: 32

Epilepsy, Familial Adult Myoclonic, 2 (FAME2)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 2

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

Name: Epilepsy, Familial Adult Myoclonic, 2 56 73
Benign Adult Familial Myoclonic Epilepsy 2 56 12 73
Bafme2 56 12 73
Fcmte2 56 12 73
Fame2 56 12 73
Adcme 56 12 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 2 56 73
Cortical Myoclonus and Epilepsy, Autosomal Dominant 56 73
Epilepsy, Familial Adult Myoclonic 2 29 6
Familial Adult Myoclonic Epilepsy 2 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 2; Fcmte2 56
Cortical Myoclonus and Epilepsy, Autosomal Dominant; Adcme 56
Benign Adult Familial Myoclonic Epilepsy 2; Bafme2 56
Autosomal Dominant Cortical Myoclonus and Epilepsy 12
Epilepsy, Myoclonic, Benign Adult Familial, Type 2 71
Familial Cortical Myoclonic Tremor and Epilepsy 2 12
Epilepsy, Myoclonic, Familial Adult, Type 2 39
Epilepsy, Myoclonic, Adult Familial, 2 13

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive or slowly progressive
movements ('tremors') characterized by 8 to 10-hz discharges
onset of tremor in adolescence or adulthood
later onset of myoclonus and seizures


HPO:

31
epilepsy, familial adult myoclonic, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111692
OMIM 56 607876
OMIM Phenotypic Series 56 PS601068
MeSH 43 D004831
MedGen 41 C1842852
UMLS 71 C1842852

Summaries for Epilepsy, Familial Adult Myoclonic, 2

OMIM : 56 Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). (607876)

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 2, also known as benign adult familial myoclonic epilepsy 2, is related to epilepsy and familial adult myoclonic epilepsy, and has symptoms including myoclonus An important gene associated with Epilepsy, Familial Adult Myoclonic, 2 is STARD7 (StAR Related Lipid Transfer Domain Containing 7). Related phenotypes are intellectual disability and cognitive impairment

Disease Ontology : 12 A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has material basis in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.

UniProtKB/Swiss-Prot : 73 Epilepsy, familial adult myoclonic, 2: 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. FAME2 inheritance is autosomal dominant.

Related Diseases for Epilepsy, Familial Adult Myoclonic, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.7 YEATS2 SAMD12 RAPGEF2 MARCHF6 ADRA2B
2 familial adult myoclonic epilepsy 27.4 YEATS2 STARD7 SAMD12 RAPGEF2 PPP1R3F MTARC2
3 early myoclonic encephalopathy 10.4
4 visual epilepsy 10.3
5 seizure disorder 10.3
6 myoclonus 10.2
7 tremor 10.2
8 epilepsy, progressive myoclonic, 4, with or without renal failure 10.2
9 spinocerebellar ataxia 37 9.7 YEATS2 SAMD12 DAB1
10 adolescence-adult electroclinical syndrome 9.6 SAMD12 RAPGEF2 DAB1
11 cri-du-chat syndrome 9.4 MARCHF6 CTNND2
12 epilepsy, familial adult myoclonic, 4 9.2 YEATS2 CTNND2 ACMSD
13 epilepsy, familial adult myoclonic, 7 9.1 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1
14 epilepsy, familial adult myoclonic, 6 9.1 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1
15 epilepsy, familial adult myoclonic, 5 8.9 CTNND2 ADRA2B ACOT8 ACMSD
16 epilepsy, familial adult myoclonic, 1 8.4 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1
17 epilepsy, familial adult myoclonic, 3 8.1 SAMD12 PPP1R3F MTARC2 MARCHF6 CTNND2 ADRA2B

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 2:



Diseases related to Epilepsy, Familial Adult Myoclonic, 2

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 2

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 cognitive impairment 31 occasional (7.5%) HP:0100543
3 myoclonus 31 HP:0001336
4 tremor 31 HP:0001337
5 blepharospasm 31 HP:0000643
6 eeg with irregular generalized spike and wave complexes 31 HP:0001326
7 giant somatosensory evoked potentials 31 HP:0001312
8 bilateral tonic-clonic seizure 31 HP:0002069
9 eeg with photoparoxysmal response 31 HP:0010852
10 enhancement of the c-reflex 31 HP:0001340
11 jerk-locked premyoclonus spikes 31 HP:0001351

Symptoms via clinical synopsis from OMIM:

56
Neurologic:
myoclonus
enhancement of the c-reflex
jerk-locked premyoclonus spikes
cognitive impairment (in some patients)
generalized tonic-clonic seizures (gtcs), infrequent
more
Head And Neck Eyes:
eyelid twitching

Voice:
vocal tremor

Clinical features from OMIM:

607876

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 STARD7

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 2

Publications for Epilepsy, Familial Adult Myoclonic, 2

Articles related to Epilepsy, Familial Adult Myoclonic, 2:

(show all 15)
# Title Authors PMID Year
1
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. 61 56 6
31664034 2019
2
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy. 6 56
24114805 2014
3
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. 6 56
11701600 2001
4
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. 61 56
22491192 2012
5
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 56
19222544 2009
6
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. 56
18231815 2008
7
Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. 56
17992546 2008
8
Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. 56
16393167 2005
9
Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. 56
12707452 2003
10
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). 56
11914412 2002
11
A narrative overview: Have clinical trials of PCI vs medical therapy addressed the right question? 61
29957261 2018
12
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. 61
27368338 2016
13
FFR and iFR guided percutaneous coronary intervention. 61
27221377 2016
14
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. 61
21850007 2011
15
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 61
20548044 2010

Variations for Epilepsy, Familial Adult Myoclonic, 2

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STARD7 NM_020151.3(STARD7):c.291-4766_291-1517CATTT[274]ATTTT[376]short repeat Pathogenic 635132 2:96862804-96866053 2:96197066-96200315
2 STARD7 STARD7, (ATTTC)n REPEAT EXPANSIONNT expansion Pathogenic 694447
3 ADRA2B NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg)indel Uncertain significance 192366 rs879255577 2:96781203-96781214 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

Biological processes related to Epilepsy, Familial Adult Myoclonic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase activity GO:0045860 8.96 RAPGEF2 DAB1
2 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 8.62 RAPGEF2 ADRA2B

Molecular functions related to Epilepsy, Familial Adult Myoclonic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.36 YEATS2 STARD7 SAMD12 RAPGEF2 PPP1R3F MARCHF6

Sources for Epilepsy, Familial Adult Myoclonic, 2

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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