Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.
about
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailStructure of the STRA6 receptor for retinol uptakeXp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyMutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyEarly myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4High-resolution genomic microarrays for X-linked mental retardation.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.CDKL5 and ARX mutations in males with early-onset epilepsy.Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation.X-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.Prevalence of Epilepsy among Cataract Patients.Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.CDKL5 alterations lead to early epileptic encephalopathy in both genders.A novel small deletion in the NHS gene associated with Nance-Horan syndrome.CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'.Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.Simultaneous Determination of Protein Structure and Dynamics Using Cryo-Electron Microscopy.Nance-Horan syndrome-The oral perspective on a rare disease.A novel Xp22.13 microdeletion in Nance-Horan syndrome.
P2860
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P2860
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@en
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@nl
type
label
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@en
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@nl
prefLabel
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@en
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@nl
P2093
P356
P1476
Encephalopathy and bilateral c ...... ising the CDKL5 and NHS genes.
@en
P2093
Guy Froyen
Hilde Van Esch
Jean-Pierre Fryns
Marijke Bauters
P304
P356
10.1002/AJMG.A.31572
P407
P577
2007-02-01T00:00:00Z