Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
about
Rett syndrome: revised diagnostic criteria and nomenclatureWhat 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 encephalopathyPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeGluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.There is variability in the attainment of developmental milestones in the CDKL5 disorder.Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation.iPS cells to model CDKL5-related disorders.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Characterisation of CDKL5 Transcript Isoforms in Human and MouseSequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth.Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.Altered expression of neuropeptides in FoxG1-null heterozygous mutant miceRecurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathyGenetics, molecular biology, and phenotypes of x-linked epilepsy.IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett PatientsTwo Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.The neuropathological consequences of CDKL5 mutation.CDKL5 alterations lead to early epileptic encephalopathy in both genders.Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Functional abilities in children and adults with the CDKL5 disorder.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
P2860
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P2860
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
description
2009 nî lūn-bûn
@nan
2009年の論文
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2009年学术文章
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2009年学术文章
@zh
2009年学术文章
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2009年学术文章
@zh-hans
2009年学术文章
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name
Early-onset seizure variant of ...... clinical diagnostic criteria.
@en
Early-onset seizure variant of ...... clinical diagnostic criteria.
@nl
type
label
Early-onset seizure variant of ...... clinical diagnostic criteria.
@en
Early-onset seizure variant of ...... clinical diagnostic criteria.
@nl
prefLabel
Early-onset seizure variant of ...... clinical diagnostic criteria.
@en
Early-onset seizure variant of ...... clinical diagnostic criteria.
@nl
P2093
P50
P1476
Early-onset seizure variant of ...... e clinical diagnostic criteria
@en
P2093
A Parmeggiani
B Dalla Bernardina
F Vigevano
M A Mencarelli
M Pollazzon
P356
10.1016/J.BRAINDEV.2009.02.004
P577
2009-04-10T00:00:00Z