EPM9
MCID: EPL154
MIFTS: 29

Epilepsy, Progressive Myoclonic, 9 (EPM9)

Categories: Genetic diseases, Metabolic diseases, Muscle 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 57 29 6
Epm9 57 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®:

57 (Updated 05-Mar-2021)
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® 57 616540
OMIM Phenotypic Series 57 PS254800
MeSH 44 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 scoliosis and global developmental delay

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 scoliosis 31 HP:0002650
2 global developmental delay 31 HP:0001263
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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. 57 6
25954030 2015

Variations for Epilepsy, Progressive Myoclonic, 9

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

6 (show top 50) (show all 144)
# 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.1256C>G (p.Ser419Trp) SNV Uncertain significance 475771 rs368949581 19:2434050-2434050 19:2434052-2434052
3 LMNB2 NM_032737.4(LMNB2):c.558+5G>A SNV Uncertain significance 475785 rs747264492 19:2438368-2438368 19:2438370-2438370
4 LMNB2 NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly) SNV Uncertain significance 475775 rs766297775 19:2433903-2433903 19:2433905-2433905
5 LMNB2 NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp) SNV Uncertain significance 475783 rs768416033 19:2438491-2438491 19:2438493-2438493
6 LMNB2 NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln) SNV Uncertain significance 475781 rs370820384 19:2444456-2444456 19:2444458-2444458
7 LMNB2 NM_032737.4(LMNB2):c.443G>A (p.Arg148His) SNV Uncertain significance 475784 rs779429811 19:2438488-2438488 19:2438490-2438490
8 LMNB2 NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp) SNV Uncertain significance 542428 rs148936043 19:2435154-2435154 19:2435156-2435156
9 LMNB2 NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter) SNV Uncertain significance 542433 rs1555683015 19:2434297-2434297 19:2434299-2434299
10 LMNB2 NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp) SNV Uncertain significance 542438 rs780728738 19:2433994-2433994 19:2433996-2433996
11 LMNB2 NM_032737.4(LMNB2):c.1822-20TCCT[6] Microsatellite Uncertain significance 542446 rs542821471 19:2430954-2430955 19:2430956-2430957
12 LMNB2 NM_032737.4(LMNB2):c.575C>T (p.Ala192Val) SNV Uncertain significance 565970 rs1389587109 19:2438270-2438270 19:2438272-2438272
13 LMNB2 NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser) SNV Uncertain significance 566358 rs1279810346 19:2438513-2438513 19:2438515-2438515
14 LMNB2 NM_032737.4(LMNB2):c.1202+4C>G SNV Uncertain significance 568398 rs756666958 19:2434289-2434289 19:2434291-2434291
15 LMNB2 NM_032737.4(LMNB2):c.658G>C (p.Asp220His) SNV Uncertain significance 571534 rs1568203965 19:2438187-2438187 19:2438189-2438189
16 LMNB2 NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp) SNV Uncertain significance 576218 rs767801199 19:2435112-2435112 19:2435114-2435114
17 LMNB2 NM_032737.4(LMNB2):c.177C>A (p.His59Gln) SNV Uncertain significance 576541 rs1437745175 19:2456755-2456755 19:2456757-2456757
18 LMNB2 NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys) SNV Uncertain significance 576852 rs201055797 19:2432434-2432434 19:2432436-2432436
19 LMNB2 NM_032737.4(LMNB2):c.512G>A (p.Arg171His) SNV Uncertain significance 578090 rs776205964 19:2438419-2438419 19:2438421-2438421
20 LMNB2 NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys) SNV Uncertain significance 578354 rs563283912 19:2434075-2434075 19:2434077-2434077
21 LMNB2 NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr) SNV Uncertain significance 435781 rs760189690 19:2431792-2431792 19:2431794-2431794
22 LMNB2 NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met) SNV Uncertain significance 660656 rs368745985 19:2432451-2432451 19:2432453-2432453
23 LMNB2 NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu) SNV Uncertain significance 577353 rs368949581 19:2434050-2434050 19:2434052-2434052
24 LMNB2 NM_032737.4(LMNB2):c.685-8G>A SNV Uncertain significance 580802 rs1284688903 19:2435177-2435177 19:2435179-2435179
25 LMNB2 NC_000019.10:g.(?_2456650)_(2456953_?)dup Duplication Uncertain significance 830908 19:2456648-2456951
26 LMNB2 NM_032737.4(LMNB2):c.1279G>T (p.Ala427Ser) SNV Uncertain significance 835352 19:2434027-2434027 19:2434029-2434029
27 LMNB2 NM_032737.4(LMNB2):c.757_759del (p.Asp253del) Deletion Uncertain significance 837379 19:2435095-2435097 19:2435097-2435099
28 LMNB2 NM_032737.4(LMNB2):c.624G>A (p.Leu208=) SNV Uncertain significance 840646 19:2438221-2438221 19:2438223-2438223
29 LMNB2 NM_032737.4(LMNB2):c.1720A>G (p.Met574Val) SNV Uncertain significance 842363 19:2431647-2431647 19:2431649-2431649
30 LMNB2 NM_032737.4(LMNB2):c.1682G>A (p.Arg561His) SNV Uncertain significance 845039 19:2431809-2431809 19:2431811-2431811
31 LMNB2 NM_032737.4(LMNB2):c.1232G>A (p.Arg411His) SNV Uncertain significance 845810 19:2434074-2434074 19:2434076-2434076
32 LMNB2 NM_032737.4(LMNB2):c.1012C>A (p.Leu338Met) SNV Uncertain significance 854462 19:2434483-2434483 19:2434485-2434485
33 LMNB2 NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser) SNV Uncertain significance 857706 19:2456883-2456883 19:2456885-2456885
34 LMNB2 NM_032737.4(LMNB2):c.388G>A (p.Glu130Lys) SNV Uncertain significance 858626 19:2444415-2444415 19:2444417-2444417
35 LMNB2 NM_032737.4(LMNB2):c.757G>A (p.Asp253Asn) SNV Uncertain significance 859972 19:2435097-2435097 19:2435099-2435099
36 LMNB2 NM_032737.4(LMNB2):c.715C>T (p.Arg239Trp) SNV Uncertain significance 861241 19:2435139-2435139 19:2435141-2435141
37 LMNB2 NM_032737.4(LMNB2):c.1267G>A (p.Gly423Ser) SNV Uncertain significance 861991 19:2434039-2434039 19:2434041-2434041
38 LMNB2 NM_032737.4(LMNB2):c.1288C>T (p.Arg430Cys) SNV Uncertain significance 862042 19:2434018-2434018 19:2434020-2434020
39 LMNB2 NM_032737.4(LMNB2):c.341G>A (p.Arg114His) SNV Uncertain significance 864151 19:2444462-2444462 19:2444464-2444464
40 LMNB2 NM_032737.4(LMNB2):c.1047C>G (p.Phe349Leu) SNV Uncertain significance 864197 19:2434448-2434448 19:2434450-2434450
41 LMNB2 NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr) SNV Uncertain significance 640950 rs372474156 19:2438528-2438528 19:2438530-2438530
42 LMNB2 NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys) SNV Uncertain significance 641848 rs140495297 19:2434857-2434857 19:2434859-2434859
43 LMNB2 NM_032737.4(LMNB2):c.1057C>A (p.Leu353Met) SNV Uncertain significance 644388 rs754149098 19:2434438-2434438 19:2434440-2434440
44 LMNB2 NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser) SNV Uncertain significance 647503 rs751675653 19:2438438-2438438 19:2438440-2438440
45 LMNB2 NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser) SNV Uncertain significance 648011 rs900966872 19:2456916-2456916 19:2456918-2456918
46 LMNB2 NM_032737.4(LMNB2):c.886A>C (p.Asn296His) SNV Uncertain significance 650469 rs1568202409 19:2434881-2434881 19:2434883-2434883
47 LMNB2 NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met) SNV Uncertain significance 651073 rs148473288 19:2434413-2434413 19:2434415-2434415
48 LMNB2 NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg) SNV Uncertain significance 653990 rs760709933 19:2434021-2434021 19:2434023-2434023
49 LMNB2 NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser) SNV Uncertain significance 655365 rs1599338116 19:2444472-2444472 19:2444474-2444474
50 LMNB2 NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn) SNV Uncertain significance 655706 rs1599331228 19:2433839-2433839 19:2433841-2433841

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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