KEGG DISEASE: Neonatal intractable myoclonus

KEGG

DISEASE: Neonatal intractable myoclonus

Entry

H02819                      Disease

Name

Neonatal intractable myoclonus

Description

Neonatal intractable myoclonus (NEIMY) is a neurologic disorder characterized by severe infantile-onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Mutations of KIF5A, which encodes a neuron-specific kinesin-heavy chain involved in the intracellular transport of mitochondria and other cargoes, have been reported to be associated with this disease.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A06  Myoclonic disorders
    H02819  Neonatal intractable myoclonus
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H02819  Neonatal intractable myoclonus

Network

nt06541 Cytoskeleton in neurons

Gene

KIF5A [HSA:3798] [KO:K10396]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE

Title

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Journal

Ann Neurol 80:633-7 (2016)
DOI:10.1002/ana.24744

Reference

Authors

Rydzanicz M, Jagla M, Kosinska J, Tomasik T, Sobczak A, Pollak A, Herman-Sucharska I, Walczak A, Kwinta P, Ploski R

Title

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

Journal

Clin Genet 91:769-773 (2017)
DOI:10.1111/cge.12831

LinkDB

» Japanese version

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