KEGG   DISEASE: Familial myoclonus
Entry
H02789                      Disease                                
Name
Familial myoclonus
Description
Myoclonus (MYOCL) is characterized by sudden, brief involuntary movements. It can be severely debilitating. Myoclonus is thought to arise from spinal, subcortical, or cortical neuronal hyperexcitability. Several underlying genetic causes of familial myoclonus have been identified.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A06  Myoclonic disorders
    H02789  Familial myoclonus
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06546  IgSF CAM signaling
   H02789  Familial myoclonus
Pathway
hsa04517 IGSF CAM signaling   
Network
nt06546 IgSF CAM signaling
Gene
(MYOCL1) NOL3 [HSA:8996] [KO:K28177]
(MYOCL2) SCN8A [HSA:6334] [KO:K04840]
Other DBs
ICD-11: 8A06.0
OMIM: 614937 618364
Reference
PMID:22926851 (MYOCL1)
  Authors
Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptacek LJ
  Title
Familial cortical myoclonus with a mutation in NOL3.
  Journal
Ann Neurol 72:175-83 (2012)
DOI:10.1002/ana.23666
Reference
PMID:29726066 (MYOCL2)
  Authors
Wagnon JL, Mencacci NE, Barker BS, Wengert ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH
  Title
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
  Journal
Hum Mutat 39:965-969 (2018)
DOI:10.1002/humu.23547
LinkDB

» Japanese version

DBGET integrated database retrieval system