Recurrent mutations in theCDKL5gene: Genotype-phenotype relationships

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life

(2011) FEDERICO MELANI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

CDKL5 alterations lead to early epileptic encephalopathy in both genders

(2011) Jao-Shwann Liang et al.   EPILEPSIA

Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity

(2011) Utcharee Intusoma et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

(2011) Sarah L. Williamson et al.   HUMAN GENETICS

Early Infantile Onset ‘‘Congenital’’ Rett Syndrome Variants: Swedish Experience Through Four Decades and Mutation Analysis

(2011) Saideh Rajaei et al.   JOURNAL OF CHILD NEUROLOGY

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

(2011) Nils Rademacher et al.   NEUROGENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Epilepsy caused by CDKL5 mutations

(2010) Maija Castrén et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype

(2009) T. Sprovieri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

(2009) R. Artuso et al.   BRAIN & DEVELOPMENT

Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

(2009) C Nemos et al.   CLINICAL GENETICS

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

(2009) Stavroula Psoni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

(2009) Sara Ricciardi et al.   HUMAN MOLECULAR GENETICS

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

(2009) S. Russo et al.   NEUROGENETICS

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

The three stages of epilepsy in patients withCDKL5mutations

(2008) Nadia Bahi-Buisson et al.   EPILEPSIA

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature

(2007) Maria Pintaudi et al.   EPILEPSY & BEHAVIOR