Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
about
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceObtaining genetic testing in pediatric epilepsyWhat we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyClinical review of genetic epileptic encephalopathiesMolecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.Involvement of cyclin-dependent kinase-like 2 in cognitive function required for contextual and spatial learning in mice.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Characterisation of CDKL5 Transcript Isoforms in Human and MouseRecurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathyCDKL5 and ARX mutations in males with early-onset epilepsy.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies.WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.CDKL5 variants: Improving our understanding of a rare neurologic disorder.Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.Mapping an X-linked locus that influences heat-induced febrile seizures in mice.CDKL5 alterations lead to early epileptic encephalopathy in both genders.STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Clinical phenotype of 5 females with a CDKL5 mutation.Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Functional abilities in children and adults with the CDKL5 disorder.Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.The genetic landscape of infantile spasms
P2860
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P2860
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutational spectrum of CDKL5 i ...... s and review of the literature
@ast
Mutational spectrum of CDKL5 i ...... s and review of the literature
@en
Mutational spectrum of CDKL5 i ...... s and review of the literature
@nl
type
label
Mutational spectrum of CDKL5 i ...... s and review of the literature
@ast
Mutational spectrum of CDKL5 i ...... s and review of the literature
@en
Mutational spectrum of CDKL5 i ...... s and review of the literature
@nl
prefLabel
Mutational spectrum of CDKL5 i ...... s and review of the literature
@ast
Mutational spectrum of CDKL5 i ...... s and review of the literature
@en
Mutational spectrum of CDKL5 i ...... s and review of the literature
@nl
P2093
P3181
P1433
P1476
Mutational spectrum of CDKL5 i ...... s and review of the literature
@en
P2093
A Goldenberg
A Roubertie
C Philippe
F Giuliano
P304
P3181
P356
10.1111/J.1399-0004.2009.01194.X
P407
P577
2009-10-01T00:00:00Z