EPM9
MCID: EPL154
MIFTS: 28

Epilepsy, Progressive Myoclonic, 9 (EPM9)

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

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:

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

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 and 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 global developmental delay and scoliosis

More information from OMIM: 616540 PS254800

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

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

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

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

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

Neurologic Central Nervous System:
seizures
myoclonus
gait ataxia
status epilepticus
enlarged ventricles (patient a)
more
Head And Neck Mouth:
small tongue (patient a)

Clinical features from OMIM:

616540

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

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

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

Anatomical Context for Epilepsy, Progressive Myoclonic, 9

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

40
Tongue

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. 6 56
25954030 2015

Variations for Epilepsy, Progressive Myoclonic, 9

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

6 (show top 50) (show all 123) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.574G>T (p.Ala192Ser)SNV Conflicting interpretations of pathogenicity 542437 rs112419003 19:2438271-2438271 19:2438273-2438273
3 LMNB2 NM_032737.4(LMNB2):c.514G>A (p.Gly172Ser)SNV Uncertain significance 542436 rs145110937 19:2438417-2438417 19:2438419-2438419
4 LMNB2 NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu)SNV Uncertain significance 542427 rs201335788 19:2434062-2434062 19:2434064-2434064
5 LMNB2 NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg)SNV Uncertain significance 542431 rs923000484 19:2438454-2438454 19:2438456-2438456
6 LMNB2 NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe)SNV Uncertain significance 542429 rs1555684976 19:2456775-2456775 19:2456777-2456777
7 LMNB2 NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter)SNV Uncertain significance 542433 rs1555683015 19:2434297-2434297 19:2434299-2434299
8 LMNB2 NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln)SNV Uncertain significance 542430 rs767615829 19:2434404-2434404 19:2434406-2434406
9 LMNB2 NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp)SNV Uncertain significance 542432 rs760267703 19:2435163-2435163 19:2435165-2435165
10 LMNB2 NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp)SNV Uncertain significance 475771 rs368949581 19:2434050-2434050 19:2434052-2434052
11 LMNB2 NM_032737.4(LMNB2):c.1822-20TCCT[6]short repeat Uncertain significance 542446 rs542821471 19:2430954-2430955 19:2430956-2430957
12 LMNB2 NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu)SNV Uncertain significance 542434 rs145444042 19:2431809-2431809 19:2431811-2431811
13 LMNB2 NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)SNV Uncertain significance 542438 rs780728738 19:2433994-2433994 19:2433996-2433996
14 LMNB2 NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)SNV Uncertain significance 542428 rs148936043 19:2435154-2435154 19:2435156-2435156
15 LMNB2 NM_032737.4(LMNB2):c.1821+4G>ASNV Uncertain significance 475780 rs779811801 19:2431542-2431542 19:2431544-2431544
16 LMNB2 NM_032737.4(LMNB2):c.443G>A (p.Arg148His)SNV Uncertain significance 475784 rs779429811 19:2438488-2438488 19:2438490-2438490
17 LMNB2 NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln)SNV Uncertain significance 475781 rs370820384 19:2444456-2444456 19:2444458-2444458
18 LMNB2 NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg)SNV Uncertain significance 475770 rs766553520 19:2434085-2434085 19:2434087-2434087
19 LMNB2 NM_032737.4(LMNB2):c.558+5G>ASNV Uncertain significance 475785 rs747264492 19:2438368-2438368 19:2438370-2438370
20 LMNB2 NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp)SNV Uncertain significance 475783 rs768416033 19:2438491-2438491 19:2438493-2438493
21 LMNB2 NM_032737.4(LMNB2):c.428C>T (p.Thr143Met)SNV Uncertain significance 475782 rs375961613 19:2438503-2438503 19:2438505-2438505
22 LMNB2 NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)SNV Uncertain significance 435781 rs760189690 19:2431792-2431792 19:2431794-2431794
23 LMNB2 NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly)SNV Uncertain significance 475775 rs766297775 19:2433903-2433903 19:2433905-2433905
24 LMNB2 NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp)SNV Uncertain significance 576218 rs767801199 19:2435112-2435112 19:2435114-2435114
25 LMNB2 NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys)SNV Uncertain significance 583240 rs1568204139 19:2438474-2438474 19:2438476-2438476
26 LMNB2 NM_032737.4(LMNB2):c.177C>A (p.His59Gln)SNV Uncertain significance 576541 rs1437745175 19:2456755-2456755 19:2456757-2456757
27 LMNB2 NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu)SNV Uncertain significance 577353 rs368949581 19:2434050-2434050 19:2434052-2434052
28 LMNB2 NM_032737.4(LMNB2):c.1202+4C>GSNV Uncertain significance 568398 rs756666958 19:2434289-2434289 19:2434291-2434291
29 LMNB2 NM_032737.4(LMNB2):c.685-8G>ASNV Uncertain significance 580802 rs1284688903 19:2435177-2435177 19:2435179-2435179
30 LMNB2 NM_032737.4(LMNB2):c.512G>A (p.Arg171His)SNV Uncertain significance 578090 rs776205964 19:2438419-2438419 19:2438421-2438421
31 LMNB2 NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu)SNV Uncertain significance 578139 rs1255813804 19:2456921-2456921 19:2456923-2456923
32 LMNB2 NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)SNV Uncertain significance 662106 19:2431578-2431578 19:2431580-2431580
33 LMNB2 NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)SNV Uncertain significance 647572 19:2431617-2431617 19:2431619-2431619
34 LMNB2 NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)SNV Uncertain significance 644067 19:2431810-2431810 19:2431812-2431812
35 LMNB2 NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)SNV Uncertain significance 660656 19:2432451-2432451 19:2432453-2432453
36 LMNB2 NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn)SNV Uncertain significance 655706 19:2433839-2433839 19:2433841-2433841
37 LMNB2 NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr)SNV Uncertain significance 657800 19:2433904-2433904 19:2433906-2433906
38 LMNB2 NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser)SNV Uncertain significance 659794 19:2433928-2433928 19:2433930-2433930
39 LMNB2 NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg)SNV Uncertain significance 653990 19:2434021-2434021 19:2434023-2434023
40 LMNB2 NM_032737.4(LMNB2):c.1096G>A (p.Val366Met)SNV Uncertain significance 665343 19:2434399-2434399 19:2434401-2434401
41 LMNB2 NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met)SNV Uncertain significance 651073 19:2434413-2434413 19:2434415-2434415
42 LMNB2 NM_032737.4(LMNB2):c.1057C>A (p.Leu353Met)SNV Uncertain significance 644388 19:2434438-2434438 19:2434440-2434440
43 LMNB2 NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln)SNV Uncertain significance 641376 19:2434446-2434446 19:2434448-2434448
44 LMNB2 NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg)SNV Uncertain significance 652804 19:2434465-2434465 19:2434467-2434467
45 LMNB2 NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys)SNV Uncertain significance 641848 19:2434857-2434857 19:2434859-2434859
46 LMNB2 NM_032737.4(LMNB2):c.886A>C (p.Asn296His)SNV Uncertain significance 650469 19:2434881-2434881 19:2434883-2434883
47 LMNB2 NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn)SNV Uncertain significance 663575 19:2435052-2435052 19:2435054-2435054
48 LMNB2 NM_032737.4(LMNB2):c.499C>G (p.Leu167Val)SNV Uncertain significance 662973 19:2438432-2438432 19:2438434-2438434
49 LMNB2 NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser)SNV Uncertain significance 647503 19:2438438-2438438 19:2438440-2438440
50 LMNB2 NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr)SNV Uncertain significance 640950 19:2438528-2438528 19:2438530-2438530

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

Expression for Epilepsy, Progressive Myoclonic, 9

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

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
Show member pathways
11.22 MIR7108 LMNB2
2 10.14 MIR7108 LMNB2

GO Terms for Epilepsy, Progressive Myoclonic, 9

Sources for Epilepsy, Progressive Myoclonic, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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