Epilepsy, Progressive Myoclonic, 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EPM9 MCID: EPL154 MIFTS: 27	Epilepsy, Progressive Myoclonic, 9 (EPM9) Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Name: Epilepsy, Progressive Myoclonic, 9 ⁵⁷ ²⁹ ⁶

Epm9 ⁵⁷ ⁵⁹ ⁷⁴

Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency ⁵⁹

Progressive Myoclonic Epilepsy Type 9 ⁵⁹

Progressive Myoclonus Epilepsy Type 9 ⁵⁹

Epilepsy, Progressive Myoclonic 9 ⁷⁴

Pme Type 9 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

progressive myoclonic epilepsy type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first decade
two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

HPO:

³²

epilepsy, progressive myoclonic, 9:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Generalized idiopathic epilepsy and epileptic syndromes

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 616540 PS254800

MeSH ⁴⁴ D020191

ICD10 via Orphanet ³⁴ G40.3

Orphanet ⁵⁹ ORPHA457265

MedGen ⁴² C4225289 CN232697

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Summaries for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot : ⁷⁴ Epilepsy, progressive myoclonic 9: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 9, also known as epm9, is related to lipodystrophy, partial, acquired. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. Affiliated tissues include tongue, and related phenotypes are scoliosis and global developmental delay

More information from OMIM: 616540 PS254800

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Related Diseases for Epilepsy, Progressive Myoclonic, 9

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 Type 3	Myoclonic Epilepsy of Infancy
Benign Adult Familial Myoclonic Epilepsy

Diseases related to Epilepsy, Progressive Myoclonic, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lipodystrophy, partial, acquired	9.2	MIR7108 LMNB2

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Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

³² (show all 9)

#	Description	HPO Source Accession
1	scoliosis ³²	HP:0002650
2	global developmental delay ³²	HP:0001263
3	myoclonus ³²	HP:0001336
4	gait ataxia ³²	HP:0002066
5	ventriculomegaly ³²	HP:0002119
6	status epilepticus ³²	HP:0002133
7	short thumb ³²	HP:0009778
8	generalized amyotrophy ³²	HP:0003700
9	microglossia ³²	HP:0000171

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
seizures
myoclonus
gait ataxia
status epilepticus
enlarged ventricles (patient a)
more

Muscle Soft Tissue:
muscle atrophy, diffuse
loss of subcutaneous fat, diffuse

Skeletal Hands:
curved digits (patient a)
short thumbs (patient a)

Skeletal Spine:
scoliosis

Head And Neck Mouth:
small tongue (patient a)

Clinical features from OMIM:

616540

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Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 9

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Genetic Tests for Epilepsy, Progressive Myoclonic, 9

Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

#	Genetic test	Affiliating Genes
1	Epilepsy, Progressive Myoclonic, 9 ²⁹	LMNB2

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Anatomical Context for Epilepsy, Progressive Myoclonic, 9

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:

⁴¹

Tongue

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Publications for Epilepsy, Progressive Myoclonic, 9

Articles related to Epilepsy, Progressive Myoclonic, 9:

#	Title	Authors	PMID	Year
1	Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ⁸ ⁷¹	Damiano JA...Hildebrand MS	25954030	2015

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Genes for Epilepsy, Progressive Myoclonic, 9

Genes related to Epilepsy, Progressive Myoclonic, 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LMNB2	Lamin B2	Protein Coding	1729.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	25954030
2	MIR7108	MicroRNA 7108	RNA Gene	8.96	GeneCards inferred via : Variants (show sections)

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Variations for Epilepsy, Progressive Myoclonic, 9

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

⁶ (show top 50) (show all 84)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	LMNB2	NM_032737.4(LMNB2): c.469C> T (p.His157Tyr)	single nucleotide variant	Pathogenic	rs797045143	19:2438462-2438462	19:2438464-2438464
2	LMNB2	NM_032737.4(LMNB2): c.402C> T (p.Ser134=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148213507	19:2438529-2438529	19:2438531-2438531
3	LMNB2	NM_032737.4(LMNB2): c.1699G> A (p.Ala567Thr)	single nucleotide variant	Uncertain significance	rs760189690	19:2431792-2431792	19:2431794-2431794
4	LMNB2	NM_032737.4(LMNB2): c.1821+4G> A	single nucleotide variant	Uncertain significance	rs779811801	19:2431542-2431542	19:2431544-2431544
5	LMNB2	NM_032737.4(LMNB2): c.443G> A (p.Arg148His)	single nucleotide variant	Uncertain significance	rs779429811	19:2438488-2438488	19:2438490-2438490
6	LMNB2	NM_032737.4(LMNB2): c.347G> A (p.Arg116Gln)	single nucleotide variant	Uncertain significance	rs370820384	19:2444456-2444456	19:2444458-2444458
7	LMNB2	NM_032737.4(LMNB2): c.1221C> A (p.Ser407Arg)	single nucleotide variant	Uncertain significance	rs766553520	19:2434085-2434085	19:2434087-2434087
8	LMNB2	NM_032737.4(LMNB2): c.558+5G> A	single nucleotide variant	Uncertain significance	rs747264492	19:2438368-2438368	19:2438370-2438370
9	LMNB2	NM_032737.4(LMNB2): c.440G> A (p.Gly147Asp)	single nucleotide variant	Uncertain significance	rs768416033	19:2438491-2438491	19:2438493-2438493
10	LMNB2	NM_032737.4(LMNB2): c.428C> T (p.Thr143Met)	single nucleotide variant	Uncertain significance	rs375961613	19:2438503-2438503	19:2438505-2438505
11	LMNB2	NM_032737.4(LMNB2): c.1256C> G (p.Ser419Trp)	single nucleotide variant	Uncertain significance	rs368949581	19:2434050-2434050	19:2434052-2434052
12	LMNB2	NM_032737.3(LMNB2): c.1822-12_1822-5dup	duplication	Uncertain significance	rs542821471	19:2430955-2430962	19:2430957-2430964
13	LMNB2	NM_032737.4(LMNB2): c.1682G> T (p.Arg561Leu)	single nucleotide variant	Uncertain significance	rs145444042	19:2431809-2431809	19:2431811-2431811
14	LMNB2	NM_032737.4(LMNB2): c.1403C> G (p.Ala468Gly)	single nucleotide variant	Uncertain significance	rs766297775	19:2433903-2433903	19:2433905-2433905
15	LMNB2	NM_032737.4(LMNB2): c.1312C> T (p.Arg438Trp)	single nucleotide variant	Uncertain significance	rs780728738	19:2433994-2433994	19:2433996-2433996
16	LMNB2	NM_032737.4(LMNB2): c.700C> T (p.Arg234Trp)	single nucleotide variant	Uncertain significance	rs148936043	19:2435154-2435154	19:2435156-2435156
17	LMNB2	NM_032737.4(LMNB2): c.1198G> T (p.Glu400Ter)	single nucleotide variant	Uncertain significance	rs1555683015	19:2434297-2434297	19:2434299-2434299
18	LMNB2	NM_032737.4(LMNB2): c.1091G> A (p.Arg364Gln)	single nucleotide variant	Uncertain significance	rs767615829	19:2434404-2434404	19:2434406-2434406
19	LMNB2	NM_032737.4(LMNB2): c.574G> T (p.Ala192Ser)	single nucleotide variant	Uncertain significance	rs112419003	19:2438271-2438271	19:2438273-2438273
20	LMNB2	NM_032737.4(LMNB2): c.514G> A (p.Gly172Ser)	single nucleotide variant	Uncertain significance	rs145110937	19:2438417-2438417	19:2438419-2438419
21	LMNB2	NM_032737.4(LMNB2): c.1244C> T (p.Ser415Leu)	single nucleotide variant	Uncertain significance	rs201335788	19:2434062-2434062	19:2434064-2434064
22	LMNB2	NM_032737.4(LMNB2): c.477C> A (p.Ser159Arg)	single nucleotide variant	Uncertain significance	rs923000484	19:2438454-2438454	19:2438456-2438456
23	LMNB2	NM_032737.4(LMNB2): c.157C> T (p.Leu53Phe)	single nucleotide variant	Uncertain significance	rs1555684976	19:2456775-2456775	19:2456777-2456777
24	LMNB2	NM_032737.4(LMNB2): c.1351G> A (p.Val451Ile)	single nucleotide variant	Uncertain significance		19:2433955-2433955	19:2433957-2433957
25	LMNB2	NM_032737.4(LMNB2): c.712G> A (p.Glu238Lys)	single nucleotide variant	Uncertain significance		19:2435142-2435142	19:2435144-2435144
26	LMNB2	NM_032737.4(LMNB2): c.658G> C (p.Asp220His)	single nucleotide variant	Uncertain significance		19:2438187-2438187	19:2438189-2438189
27	LMNB2	NM_032737.4(LMNB2): c.1570C> T (p.Arg524Cys)	single nucleotide variant	Uncertain significance		19:2432434-2432434	19:2432436-2432436
28	LMNB2	NM_032737.4(LMNB2): c.1231C> T (p.Arg411Cys)	single nucleotide variant	Uncertain significance		19:2434075-2434075	19:2434077-2434077
29	LMNB2	NM_032737.4(LMNB2): c.575C> T (p.Ala192Val)	single nucleotide variant	Uncertain significance		19:2438270-2438270	19:2438272-2438272
30	LMNB2	NM_032737.4(LMNB2): c.418G> A (p.Gly140Ser)	single nucleotide variant	Uncertain significance		19:2438513-2438513	19:2438515-2438515
31	LMNB2	NM_032737.4(LMNB2): c.1298G> A (p.Arg433His)	single nucleotide variant	Uncertain significance		19:2434008-2434008	19:2434010-2434010
32	LMNB2	NM_032737.4(LMNB2): c.742C> T (p.Arg248Trp)	single nucleotide variant	Uncertain significance		19:2435112-2435112	19:2435114-2435114
33	LMNB2	NM_032737.4(LMNB2): c.457G> A (p.Glu153Lys)	single nucleotide variant	Uncertain significance		19:2438474-2438474	19:2438476-2438476
34	LMNB2	NM_032737.4(LMNB2): c.177C> A (p.His59Gln)	single nucleotide variant	Uncertain significance		19:2456755-2456755	19:2456757-2456757
35	LMNB2	NM_032737.4(LMNB2): c.1256C> T (p.Ser419Leu)	single nucleotide variant	Uncertain significance		19:2434050-2434050	19:2434052-2434052
36	LMNB2	NM_032737.4(LMNB2): c.1202+4C> G	single nucleotide variant	Uncertain significance		19:2434289-2434289	19:2434291-2434291
37	LMNB2	NM_032737.4(LMNB2): c.685-8G> A	single nucleotide variant	Uncertain significance		19:2435177-2435177	19:2435179-2435179
38	LMNB2	NM_032737.4(LMNB2): c.512G> A (p.Arg171His)	single nucleotide variant	Uncertain significance		19:2438419-2438419	19:2438421-2438421
39	LMNB2	NM_032737.4(LMNB2): c.11C> T (p.Pro4Leu)	single nucleotide variant	Uncertain significance		19:2456921-2456921	19:2456923-2456923
40	LMNB2	NM_032737.4(LMNB2): c.1789G> A (p.Glu597Lys)	single nucleotide variant	Uncertain significance		19:2431578-2431578	19:2431580-2431580
41	LMNB2	NM_032737.4(LMNB2): c.1750C> T (p.Arg584Cys)	single nucleotide variant	Uncertain significance		19:2431617-2431617	19:2431619-2431619
42	LMNB2	NM_032737.4(LMNB2): c.1681C> T (p.Arg561Cys)	single nucleotide variant	Uncertain significance		19:2431810-2431810	19:2431812-2431812
43	LMNB2	NM_032737.4(LMNB2): c.1553C> T (p.Thr518Met)	single nucleotide variant	Uncertain significance		19:2432451-2432451	19:2432453-2432453
44	LMNB2	NM_032737.4(LMNB2): c.1467G> C (p.Lys489Asn)	single nucleotide variant	Uncertain significance		19:2433839-2433839	19:2433841-2433841
45	LMNB2	NM_032737.4(LMNB2): c.1402G> A (p.Ala468Thr)	single nucleotide variant	Uncertain significance		19:2433904-2433904	19:2433906-2433906
46	LMNB2	NM_032737.4(LMNB2): c.1378G> A (p.Gly460Ser)	single nucleotide variant	Uncertain significance		19:2433928-2433928	19:2433930-2433930
47	LMNB2	NM_032737.4(LMNB2): c.1285G> A (p.Gly429Arg)	single nucleotide variant	Uncertain significance		19:2434021-2434021	19:2434023-2434023
48	LMNB2	NM_032737.4(LMNB2): c.1096G> A (p.Val366Met)	single nucleotide variant	Uncertain significance		19:2434399-2434399	19:2434401-2434401
49	LMNB2	NM_032737.4(LMNB2): c.1082C> T (p.Thr361Met)	single nucleotide variant	Uncertain significance		19:2434413-2434413	19:2434415-2434415
50	LMNB2	NM_032737.4(LMNB2): c.1057C> A (p.Leu353Met)	single nucleotide variant	Uncertain significance		19:2434438-2434438	19:2434440-2434440

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	LMNB2	p.His157Tyr	VAR_074170	rs797045143

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Expression for Epilepsy, Progressive Myoclonic, 9

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 9.

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Pathways for Epilepsy, Progressive Myoclonic, 9

Pathways related to Epilepsy, Progressive Myoclonic, 9 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Apoptosis and survival Caspase cascade ²² Show member pathways Apoptosis and survival FAS signaling cascades ²² Breakdown of the nuclear lamina ⁶⁶ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁶ Influenza A virus infection ¹	11.22	MIR7108 LMNB2
2	Gastric Cancer Network 2 ¹	10.14	MIR7108 LMNB2

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GO Terms for Epilepsy, Progressive Myoclonic, 9

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Sources for Epilepsy, Progressive Myoclonic, 9

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Epilepsy, Progressive Myoclonic, 9 (EPM9)

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Progressive Myoclonic, 9

Related Diseases for Epilepsy, Progressive Myoclonic, 9

Diseases in the Epilepsy, Myoclonic Juvenile family:

Diseases related to Epilepsy, Progressive Myoclonic, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

Genetic Tests for Epilepsy, Progressive Myoclonic, 9

Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

Anatomical Context for Epilepsy, Progressive Myoclonic, 9

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:

Publications for Epilepsy, Progressive Myoclonic, 9

Articles related to Epilepsy, Progressive Myoclonic, 9:

Genes for Epilepsy, Progressive Myoclonic, 9

Genes related to Epilepsy, Progressive Myoclonic, 9 (1 elite genes):

Variations for Epilepsy, Progressive Myoclonic, 9

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

Expression for Epilepsy, Progressive Myoclonic, 9

Pathways for Epilepsy, Progressive Myoclonic, 9

Pathways related to Epilepsy, Progressive Myoclonic, 9 according to GeneCards Suite gene sharing:

GO Terms for Epilepsy, Progressive Myoclonic, 9

Sources for Epilepsy, Progressive Myoclonic, 9