Details of Disease

General Information of Disease (ID: DISWD0RI)

Disease Name Progressive myoclonic epilepsy type 9
Synonyms
epilepsy, progressive myoclonic, 9; progressive myoclonic epilepsy due to LMNB2 deficiency; progressive myoclonus epilepsy type 9; epilepsy, progressive myoclonic, type 9; EPM9; LMNB2 progressive myoclonic epilepsy; progressive myoclonic epilepsy caused by mutation in LMNB2; PME type 9
Definition Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.
Disease Hierarchy
DISAMCNS: Progressive myoclonus epilepsy
DISWD0RI: Progressive myoclonic epilepsy type 9
Disease Identifiers
MONDO ID
MONDO_0014685
UMLS CUI
C4225289
OMIM ID
616540
MedGen ID
901242
Orphanet ID
457265
SNOMED CT ID
1228857005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNB2 OTXRDUOS Strong Autosomal recessive [1]
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References

1 Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7.