Clinical Phenotype of 5 Females With a CDKL5 Mutation

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

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

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

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

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

(2008) J. L. Neul et al.   NEUROLOGY