Epilepsy, Familial Adult Myoclonic, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 4

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

Name: Epilepsy, Familial Adult Myoclonic, 4 ⁵⁷ ⁷³ ¹³ ⁶ ⁷¹

Fcmte4 ⁵⁷ ¹² ⁷³

Fame4 ⁵⁷ ¹² ⁷³

Cortical Myoclonic Tremor with Epilepsy, Familial, 4 ⁵⁷ ⁷³

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 05-Mar-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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111693

OMIM® ⁵⁷ 615127

OMIM Phenotypic Series ⁵⁷ PS601068

MeSH ⁴⁴ D004831

MedGen ⁴¹ C3554560

SNOMED-CT via HPO ⁶⁸ 127324008 128613002 17450006 more

UMLS ⁷¹ C3554560

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Summaries for Epilepsy, Familial Adult Myoclonic, 4

UniProtKB/Swiss-Prot : ⁷³ 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

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Related Diseases for Epilepsy, Familial Adult Myoclonic, 4

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	Epilepsy, Progressive Myoclonic, 12
Familial Adult Myoclonic Epilepsy	Epilepsy Progressive Myoclonic Type 3
Myoclonic Epilepsy of Infancy

Diseases related to Epilepsy, Familial Adult Myoclonic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	epilepsy, familial adult myoclonic, 1	9.7	YEATS2 ADRA2B
2	epilepsy, familial adult myoclonic, 2	9.6	YEATS2 ADRA2B
3	epilepsy, familial adult myoclonic, 5	9.3	KCNMB3 HTR3D ADRA2B
4	familial adult myoclonic epilepsy	9.0	YEATS2 KCNMB3 HTR3D ADRA2B

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Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 4

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

³¹ (show all 6)

#	Description	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 05-Mar-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 05-Mar-2021)

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Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 4

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

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Genetic Tests for Epilepsy, Familial Adult Myoclonic, 4

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Anatomical Context for Epilepsy, Familial Adult Myoclonic, 4

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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	Yeetong P...Shotelersuk V	31539032	2019
2	A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28. ⁵⁷	Yeetong P...Shotelersuk V	22713812	2013
3	Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances. ⁶¹	Cen ZD...Luo W	26751243	2016
4	Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family. ⁶¹	Cen ZD...Luo W	26130016	2015

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Genes for Epilepsy, Familial Adult Myoclonic, 4

Genes related to Epilepsy, Familial Adult Myoclonic, 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	YEATS2	YEATS Domain Containing 2	Protein Coding	958.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders (show sections)	31539032
2	FAME4	Epilepsy, Familial Adult Myoclonic, 4	Genetic Locus	8.91	GeneCards inferred via : Gene name (show sections)
3	HTR3D	5-Hydroxytryptamine Receptor 3D	Protein Coding	7.41	DISEASES inferred ¹⁵
4	KCNMB3	Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3	Protein Coding	7.26	DISEASES inferred ¹⁵
5	ADRA2B	Adrenoceptor Alpha 2B	Protein Coding	6.96	DISEASES inferred ¹⁵

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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	GRCh37 Pos	GRCh38 Pos
1	YEATS2	NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]	Microsatellite	Pathogenic	694503

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Expression for Epilepsy, Familial Adult Myoclonic, 4

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

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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	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	11.12	KCNMB3 ADRA2B

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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

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Sources for Epilepsy, Familial Adult Myoclonic, 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

⁹ Cosmic

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²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Epilepsy, Familial Adult Myoclonic, 4 (FAME4)

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 4

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Familial Adult Myoclonic, 4

Related Diseases for Epilepsy, Familial Adult Myoclonic, 4

Diseases in the Epilepsy, Myoclonic Juvenile family:

Diseases related to Epilepsy, Familial Adult Myoclonic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 4

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Genes for Epilepsy, Familial Adult Myoclonic, 4

Genes related to Epilepsy, Familial Adult Myoclonic, 4 (1 elite genes):

Variations for Epilepsy, Familial Adult Myoclonic, 4

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

Expression 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:

GO Terms for Epilepsy, Familial Adult Myoclonic, 4

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

Sources for Epilepsy, Familial Adult Myoclonic, 4