EPM9
MCID: EPL154
MIFTS: 27

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 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:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D020191
ICD10 via Orphanet 34 G40.3
Orphanet 59 ORPHA457265

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

Related Diseases for Epilepsy, Progressive Myoclonic, 9

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

32 (show all 9)
# Description HPO Frequency 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

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:

41
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. 8 71
25954030 2015

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

Expression for Epilepsy, Progressive Myoclonic, 9

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GO Terms for Epilepsy, Progressive Myoclonic, 9

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