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

EPM9 MCID: EPL154 MIFTS: 25	Epilepsy, Progressive Myoclonic, 9 (EPM9) Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Name: Epilepsy, Progressive Myoclonic, 9 ⁵⁶ ²⁹ ⁶

Epm9 ⁵⁶ ⁵⁸ ⁷³

Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency ⁵⁸

Progressive Myoclonus Epilepsy Type 9 ⁵⁸

Progressive Myoclonic Epilepsy Type 9 ⁵⁸

Epilepsy, Progressive Myoclonic 9 ⁷³

Pme Type 9 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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:

³¹

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: ³³

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Generalized idiopathic epilepsy and epileptic syndromes

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM ⁵⁶ 616540

OMIM Phenotypic Series ⁵⁶ PS254800

MeSH ⁴³ D020191

ICD10 via Orphanet ³³ G40.3

Orphanet ⁵⁸ ORPHA457265

MedGen ⁴¹ C4225289 CN232697

SNOMED-CT via HPO ⁶⁸ 111266001 127324008 17450006 more

Sources

Summaries for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot : ⁷³ 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 delayed psychomotor development.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 9, also known as epm9, is related to progressive myoclonus epilepsy 9. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2). Affiliated tissues include tongue, and related phenotypes are scoliosis and global developmental delay

More information from OMIM: 616540 PS254800

Sources

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	progressive myoclonus epilepsy 9	11.3

Sources

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

³¹ (show all 9)

#	Description	HPO Source Accession
1	scoliosis ³¹	HP:0002650
2	global developmental delay ³¹	HP:0001263
3	myoclonus ³¹	HP:0001336
4	gait ataxia ³¹	HP:0002066
5	ventriculomegaly ³¹	HP:0002119
6	status epilepticus ³¹	HP:0002133
7	short thumb ³¹	HP:0009778
8	generalized amyotrophy ³¹	HP:0003700
9	microglossia ³¹	HP:0000171

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Sources

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

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

Sources

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

Sources

Anatomical Context for Epilepsy, Progressive Myoclonic, 9

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

⁴⁰

Tongue

Sources

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. ⁵⁶ ⁶	Damiano JA...Hildebrand MS	25954030	2015

Sources

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	1719.94	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	25954030

Sources

Variations for Epilepsy, Progressive Myoclonic, 9

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

⁶ (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LMNB2	NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)	SNV	Pathogenic	208980	rs797045143	19:2438462-2438462	19:2438464-2438464
2	LMNB2	NM_032737.4(LMNB2):c.443G>A (p.Arg148His)	SNV	Uncertain significance	475784	rs779429811	19:2438488-2438488	19:2438490-2438490
3	LMNB2	NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln)	SNV	Uncertain significance	475781	rs370820384	19:2444456-2444456	19:2444458-2444458
4	LMNB2	NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg)	SNV	Uncertain significance	475770	rs766553520	19:2434085-2434085	19:2434087-2434087
5	LMNB2	NM_032737.4(LMNB2):c.558+5G>A	SNV	Uncertain significance	475785	rs747264492	19:2438368-2438368	19:2438370-2438370
6	LMNB2	NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp)	SNV	Uncertain significance	475783	rs768416033	19:2438491-2438491	19:2438493-2438493
7	LMNB2	NM_032737.4(LMNB2):c.428C>T (p.Thr143Met)	SNV	Uncertain significance	475782	rs375961613	19:2438503-2438503	19:2438505-2438505
8	LMNB2	NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly)	SNV	Uncertain significance	475775	rs766297775	19:2433903-2433903	19:2433905-2433905
9	LMNB2	NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp)	SNV	Uncertain significance	475771	rs368949581	19:2434050-2434050	19:2434052-2434052
10	LMNB2	NM_032737.4(LMNB2):c.1822-20TCCT[6]	short repeat	Uncertain significance	542446	rs542821471	19:2430954-2430955	19:2430956-2430957
11	LMNB2	NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu)	SNV	Uncertain significance	542434	rs145444042	19:2431809-2431809	19:2431811-2431811
12	LMNB2	NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)	SNV	Uncertain significance	542438	rs780728738	19:2433994-2433994	19:2433996-2433996
13	LMNB2	NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)	SNV	Uncertain significance	542428	rs148936043	19:2435154-2435154	19:2435156-2435156
14	LMNB2	NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter)	SNV	Uncertain significance	542433	rs1555683015	19:2434297-2434297	19:2434299-2434299
15	LMNB2	NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln)	SNV	Uncertain significance	542430	rs767615829	19:2434404-2434404	19:2434406-2434406
16	LMNB2	NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)	SNV	Uncertain significance	435781	rs760189690	19:2431792-2431792	19:2431794-2431794
17	LMNB2	NM_032737.4(LMNB2):c.1821+4G>A	SNV	Uncertain significance	475780	rs779811801	19:2431542-2431542	19:2431544-2431544
18	LMNB2	NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp)	SNV	Uncertain significance	542432	rs760267703	19:2435163-2435163	19:2435165-2435165
19	LMNB2	NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)	SNV	Uncertain significance	542437	rs112419003	19:2438271-2438271	19:2438273-2438273
20	LMNB2	NM_032737.4(LMNB2):c.514G>A (p.Gly172Ser)	SNV	Uncertain significance	542436	rs145110937	19:2438417-2438417	19:2438419-2438419
21	LMNB2	NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu)	SNV	Uncertain significance	542427	rs201335788	19:2434062-2434062	19:2434064-2434064
22	LMNB2	NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg)	SNV	Uncertain significance	542431	rs923000484	19:2438454-2438454	19:2438456-2438456
23	LMNB2	NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe)	SNV	Uncertain significance	542429	rs1555684976	19:2456775-2456775	19:2456777-2456777
24	LMNB2	NM_032737.4(LMNB2):c.273C>T (p.Gly91=)	SNV	Uncertain significance	542435	rs1163719792	19:2444530-2444530	19:2444532-2444532
25	LMNB2	NM_032737.4(LMNB2):c.1351G>A (p.Val451Ile)	SNV	Uncertain significance	571690	rs551737995	19:2433955-2433955	19:2433957-2433957
26	LMNB2	NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys)	SNV	Uncertain significance	576161	rs773444127	19:2435142-2435142	19:2435144-2435144
27	LMNB2	NM_032737.4(LMNB2):c.658G>C (p.Asp220His)	SNV	Uncertain significance	571534	rs1568203965	19:2438187-2438187	19:2438189-2438189
28	LMNB2	NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys)	SNV	Uncertain significance	576852	rs201055797	19:2432434-2432434	19:2432436-2432436
29	LMNB2	NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys)	SNV	Uncertain significance	578354	rs563283912	19:2434075-2434075	19:2434077-2434077
30	LMNB2	NM_032737.4(LMNB2):c.575C>T (p.Ala192Val)	SNV	Uncertain significance	565970	rs1389587109	19:2438270-2438270	19:2438272-2438272
31	LMNB2	NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser)	SNV	Uncertain significance	566358	rs1279810346	19:2438513-2438513	19:2438515-2438515
32	LMNB2	NM_032737.4(LMNB2):c.1298G>A (p.Arg433His)	SNV	Uncertain significance	576766	rs770685785	19:2434008-2434008	19:2434010-2434010
33	LMNB2	NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp)	SNV	Uncertain significance	576218	rs767801199	19:2435112-2435112	19:2435114-2435114
34	LMNB2	NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys)	SNV	Uncertain significance	583240	rs1568204139	19:2438474-2438474	19:2438476-2438476
35	LMNB2	NM_032737.4(LMNB2):c.177C>A (p.His59Gln)	SNV	Uncertain significance	576541	rs1437745175	19:2456755-2456755	19:2456757-2456757
36	LMNB2	NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu)	SNV	Uncertain significance	577353	rs368949581	19:2434050-2434050	19:2434052-2434052
37	LMNB2	NM_032737.4(LMNB2):c.1202+4C>G	SNV	Uncertain significance	568398	rs756666958	19:2434289-2434289	19:2434291-2434291
38	LMNB2	NM_032737.4(LMNB2):c.685-8G>A	SNV	Uncertain significance	580802	rs1284688903	19:2435177-2435177	19:2435179-2435179
39	LMNB2	NM_032737.4(LMNB2):c.512G>A (p.Arg171His)	SNV	Uncertain significance	578090	rs776205964	19:2438419-2438419	19:2438421-2438421
40	LMNB2	NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu)	SNV	Uncertain significance	578139	rs1255813804	19:2456921-2456921	19:2456923-2456923
41	LMNB2	NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)	SNV	Uncertain significance	662106		19:2431578-2431578	19:2431580-2431580
42	LMNB2	NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)	SNV	Uncertain significance	647572		19:2431617-2431617	19:2431619-2431619
43	LMNB2	NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)	SNV	Uncertain significance	644067		19:2431810-2431810	19:2431812-2431812
44	LMNB2	NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)	SNV	Uncertain significance	660656		19:2432451-2432451	19:2432453-2432453
45	LMNB2	NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn)	SNV	Uncertain significance	655706		19:2433839-2433839	19:2433841-2433841
46	LMNB2	NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr)	SNV	Uncertain significance	657800		19:2433904-2433904	19:2433906-2433906
47	LMNB2	NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser)	SNV	Uncertain significance	659794		19:2433928-2433928	19:2433930-2433930
48	LMNB2	NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg)	SNV	Uncertain significance	653990		19:2434021-2434021	19:2434023-2434023
49	LMNB2	NM_032737.4(LMNB2):c.1096G>A (p.Val366Met)	SNV	Uncertain significance	665343		19:2434399-2434399	19:2434401-2434401
50	LMNB2	NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met)	SNV	Uncertain significance	651073		19:2434413-2434413	19:2434415-2434415

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

⁷³

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

Sources

Expression for Epilepsy, Progressive Myoclonic, 9

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

Sources

Pathways for Epilepsy, Progressive Myoclonic, 9

Sources

GO Terms for Epilepsy, Progressive Myoclonic, 9

Sources

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

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

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 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

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

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, 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

GO Terms for Epilepsy, Progressive Myoclonic, 9

Sources for Epilepsy, Progressive Myoclonic, 9