FAME4
MCID: EPL107
MIFTS: 25

Epilepsy, Familial Adult Myoclonic, 4 (FAME4)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 4

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 4:

Name: Epilepsy, Familial Adult Myoclonic, 4 57 72 13 6 70
Fcmte4 57 12 72
Fame4 57 12 72
Cortical Myoclonic Tremor with Epilepsy, Familial, 4 57 72
Familial Adult Myoclonic Epilepsy 4 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 4; Fcmte4 57
Familial Cortical Myoclonic Tremor and Epilepsy 4 12
Epilepsy, Myoclonic, Familial Adult, Type 4 39
Epilepsy, Myoclonic, Familial Adult, 4 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive course
young-adult onset
onset of tremor usually before onset of seizures
anticonvulsants are effective
one family of thai origin has been reported (last curated november 2019)


HPO:

31
epilepsy, familial adult myoclonic, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111693
OMIM® 57 615127
OMIM Phenotypic Series 57 PS601068
MeSH 44 D004831
MedGen 41 C3554560
UMLS 70 C3554560

Summaries for Epilepsy, Familial Adult Myoclonic, 4

UniProtKB/Swiss-Prot : 72 Epilepsy, familial adult myoclonic, 4: 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. FAME4 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 4, also known as fcmte4, is related to epilepsy, familial adult myoclonic, 1 and epilepsy, familial adult myoclonic, 2. An important gene associated with Epilepsy, Familial Adult Myoclonic, 4 is YEATS2 (YEATS Domain Containing 2), and among its related pathways/superpathways is cGMP-PKG signaling pathway. Related phenotypes are tremor and myoclonus

Disease Ontology : 12 A familial adult myoclonic epilepsy that has material basis in heterozygous mutation in YEATS2 on chromosome 3q27.1.

More information from OMIM: 615127 PS601068

Related Diseases for Epilepsy, Familial Adult Myoclonic, 4

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 4

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 4:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 myoclonus 31 HP:0001336
3 seizure 31 HP:0001250
4 bilateral tonic-clonic seizure 31 HP:0002069
5 enhancement of the c-reflex 31 HP:0001340
6 jerk-locked premyoclonus spikes 31 HP:0001351

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
enhancement of the c-reflex
jerk-locked premyoclonus spikes
giant cortical somatosensory evoked potentials (seps)
involuntary rhythmic myoclonic movements ('tremor', upper extremities)
cortical origin of the tremor
more

Clinical features from OMIM®:

615127 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 4

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 4

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 4

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 4

Publications for Epilepsy, Familial Adult Myoclonic, 4

Articles related to Epilepsy, Familial Adult Myoclonic, 4:

# Title Authors PMID Year
1
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4. 6 57
31539032 2019
2
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28. 57
22713812 2013
3
Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances. 61
26751243 2016
4
Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family. 61
26130016 2015

Variations for Epilepsy, Familial Adult Myoclonic, 4

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 YEATS2 NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)] Microsatellite Pathogenic 694503 GRCh37:
GRCh38:

Expression for Epilepsy, Familial Adult Myoclonic, 4

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 4.

Pathways for Epilepsy, Familial Adult Myoclonic, 4

Pathways related to Epilepsy, Familial Adult Myoclonic, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 KCNMB3 ADRA2B

GO Terms for Epilepsy, Familial Adult Myoclonic, 4

Cellular components related to Epilepsy, Familial Adult Myoclonic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.8 KCNMB3 HTR3D ADRA2B

Sources for Epilepsy, Familial Adult Myoclonic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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