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

Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

(2012) Aglaia Vignoli 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

Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children

(2011) Amy Brooks-Kayal   EPILEPSIA

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

(2011) Alex R Paciorkowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano 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

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki 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

FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation

(2010) M. Roth et al.   DEVELOPMENT

Epilepsy in Rett syndrome: Clinical and genetic features

(2010) Maria Pintaudi et al.   EPILEPSY & BEHAVIOR

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epilepsy caused by CDKL5 mutations

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

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

(2010) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

(2010) Delphine Carouge et al.   NEUROBIOLOGY OF DISEASE

Epilepsy and the natural history of Rett syndrome

(2010) D. G. Glaze et al.   NEUROLOGY

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 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

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

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

(2009) Francois Dominique Jacob et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

(2009) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

(2009) Alison Yeung et al.   European Journal of Medical Genetics

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

(2009) C. Philippe et al.   JOURNAL OF MEDICAL GENETICS

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

(2009) M. A. Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

Intact Long-Term Potentiation but Reduced Connectivity between Neocortical Layer 5 Pyramidal Neurons in a Mouse Model of Rett Syndrome

(2009) V. S. Dani et al.   JOURNAL OF NEUROSCIENCE

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

(2009) Bernard Echenne et al.   PEDIATRIC NEUROLOGY

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features

(2008) Filomena Tiziana Papa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1

(2008) Isamu Kameshita et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

(2008) Jill Clayton-Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rett Syndrome: From the Gene to the Disease

(2008) Tanja Matijevic et al.   EUROPEAN NEUROLOGY

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

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

(2008) J. L. Neul et al.   NEUROLOGY

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

(2008) M. Elia et al.   NEUROLOGY

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE