CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
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Convulsing toward the pathophysiology of autismFunctional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardationRett syndrome: revised diagnostic criteria and nomenclatureCDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesWhat 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 syndromeTreatment of epileptic encephalopathiesKey clinical features to identify girls with CDKL5 mutationsPreclinical research in Rett syndrome: setting the foundation for translational success.Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.Epilepsy genetics--past, present, and futureEarly myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4There 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.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersCAGE-defined promoter regions of the genes implicated in Rett Syndrome.Adult Phenotypes in Angelman- and Rett-Like Syndromes.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.The relationship of Rett syndrome and MECP2 disorders to autism.Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathyCDKL5 and ARX mutations in males with early-onset epilepsy.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Autism spectrum disorders: the quest for genetic syndromes.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Autism genetics - an overview.Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.CDKL5 variants: Improving our understanding of a rare neurologic disorder.Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors.CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.CDKL5 alterations lead to early epileptic encephalopathy in both genders.A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
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P2860
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
CDKL5 mutations cause infantil ...... etardation in female patients.
@en
type
label
CDKL5 mutations cause infantil ...... etardation in female patients.
@en
prefLabel
CDKL5 mutations cause infantil ...... etardation in female patients.
@en
P2093
P2860
P356
P1476
CDKL5 mutations cause infantil ...... retardation in female patients
@en
P2093
H L Archer
R Newbury-Ecob
P2860
P304
P356
10.1136/JMG.2006.041467
P407
P577
2006-04-12T00:00:00Z