Optimizing the molecular diagnosis ofCDKL5gene-related epileptic encephalopathy in boys

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

(2013) Ghayda M. Mirzaa et al.   PEDIATRIC NEUROLOGY

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

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

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

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

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

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