Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

PubWeight™: 0.81‹?›

🔗 View Article (PMID 25471517)

Published in J Hum Genet on December 04, 2014

Authors

Hirofumi Kodera1, Hitoshi Osaka2, Mizue Iai2, Noriko Aida3, Akio Yamashita4, Yoshinori Tsurusaki1, Mitsuko Nakashima1, Noriko Miyake1, Hirotomo Saitsu1, Naomichi Matsumoto1

Author Affiliations

1: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
2: Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
3: Division of Radiology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
4: Department of Molecular Biology, Yokohama City University School of Medicine and Graduate School of Medical Science, Yokohama, Japan.

Articles cited by this

Aminoacyl-tRNA synthesis. Annu Rev Biochem (2000) 7.68

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet (2013) 4.71

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet (2007) 3.55

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol (2012) 1.80

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet (2014) 1.71

Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab (2013) 1.68

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet (2013) 1.46

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45

Transfer RNA and human disease. Front Genet (2014) 1.35

Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab (2012) 1.08

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol Genet Genomic Med (2014) 0.99

Mutations in RARS cause hypomyelination. Ann Neurol (2014) 0.90

Articles by these authors

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet (2012) 1.64

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol (2015) 1.10

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet (2014) 1.05

Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet (2016) 1.00

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. J Hum Genet (2014) 0.94

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet (2015) 0.92

Novel FIG4 mutations in Yunis-Varon syndrome. J Hum Genet (2013) 0.91

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord (2014) 0.91

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep (2015) 0.91

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. J Hum Genet (2015) 0.89

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Brain Dev (2013) 0.88

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. Sci Rep (2016) 0.87

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet (2016) 0.87

De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia (2016) 0.86

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet (2017) 0.85

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet (2014) 0.85

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. J Hum Genet (2014) 0.84

The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia (2016) 0.84

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet (2015) 0.83

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. J Hum Genet (2015) 0.83

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet (2017) 0.82

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet (2016) 0.82

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. J Hum Genet (2016) 0.82

Novel compound heterozygous LIAS mutations cause glycine encephalopathy. J Hum Genet (2015) 0.82

WDR45 mutations in three male patients with West syndrome. J Hum Genet (2016) 0.81

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. J Hum Genet (2016) 0.81