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

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

(2010) Stuart A Scott et al.   GENETICS IN MEDICINE

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

A novelCDKL5mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

(2009) Stefano Sartori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

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

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