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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
See this aricle in Pubmed

Article Abstract
Since the first case was reported in 2012, a total of 21 subjects with FARS2 deficiency have been reported to date with a spectrum of disease severity that falls between two phenotypes; early onset epileptic encephalopathy and a less severe phenotype characterized by spastic paraplegia.
 
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cerebral palsy
children
consanguinity
developmental milestones,loss of
dysarthria
encephalopathy
epileptic encephalopathy
failure to thrive
familial
FARS2 deficiency
fine motor function,impaired
gait disorder
gene
gene mutation
genetic testing
hyperreflexia
hypotonia
liver disease
meningitis,CSF cell count-normal
microcephaly
misdiagnosis
mitochondrial disease
MRI,abnormal
paraparesis,familial spastic
paraparesis,spastic
prognosis
pyramidal tract dysfunction
seizure
seizure,children
spastic diplegia
spasticity
toe walking

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