The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

(2011) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rett syndrome: A study of the face

(2011) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5

(2011) Hirotomo Saitsu et al.   BRAIN & DEVELOPMENT

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

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

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

(2011) Stefano Sartori et al.   JOURNAL OF CHILD NEUROLOGY

Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome

(2011) Stephanie Fehr et al.   JOURNAL OF CHILD NEUROLOGY

Clinical Phenotype of 5 Females With a CDKL5 Mutation

(2011) Xenia L. Stalpers et al.   JOURNAL OF CHILD NEUROLOGY

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

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

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

(2011) K. M. Klein et al.   NEUROLOGY

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

(2010) Julien Masliah-Plachon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

(2010) Kinga Hadzsiev et al.   JOURNAL OF HUMAN GENETICS

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

(2010) Rose White et al.   Twin Research and Human Genetics

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

CDKL5truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

(2009) C Córdova-Fletes 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

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

(2009) S. Russo et al.   NEUROGENETICS

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

(2009) Ayelet Erez et al.   NEUROGENETICS

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

(2009) Y. Fichou et al.   NEUROLOGY

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 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

(2008) M. Elia et al.   NEUROLOGY

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

(2008) A. Bebbington et al.   NEUROLOGY