X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms

(2020) Patrick J. Mulcahey et al.   EXPERIMENTAL NEUROLOGY

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

(2019) Heather E. Olson et al.   PEDIATRIC NEUROLOGY

Severity Assessment in CDKL5 Deficiency Disorder

(2019) Scott Demarest et al.   PEDIATRIC NEUROLOGY

Phenotypic manifestations between male and female children with CDKL5 mutations

(2019) Jao-Shwann Liang et al.   BRAIN & DEVELOPMENT

Reflex Seizures in a Patient with CDKL5 Deficiency Disorder

(2019) Tyler Peikes et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 Deficiency Disorder

(2019) Madhumita Yennawar et al.   JOURNAL OF NEUROSCIENCE

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

(2019) Joseph D Symonds et al.   BRAIN

Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder

(2019) Sheng Tang et al.   Nature Communications

A male case with CDKL5 -associated encephalopathy manifesting transient methylmalonic acidemia

(2018) Satoshi Akamine et al.   European Journal of Medical Genetics

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

(2018) Kristy L Kolc et al.   MOLECULAR PSYCHIATRY

Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory

(2018) Kosuke Okuda et al.   PLoS One

Molecular and Synaptic Bases of CDKL5 Disorder

(2018) Yong-Chuan Zhu et al.   Developmental Neurobiology

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

(2017) Mary Beth Stosser et al.   GENETICS IN MEDICINE

Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice

(2017) Sheng Tang et al.   JOURNAL OF NEUROSCIENCE

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

(2017) Kosuke Okuda et al.   NEUROBIOLOGY OF DISEASE

Interactions between hormones and epilepsy

(2015) Erik Taubøll et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild HumanARXMutations

(2014) Jacqueline C. Simonet et al.   CEREBRAL CORTEX

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

(2014) Przemyslaw Szafranski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder

(2014) Elena Amendola et al.   PLoS One

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

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

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

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Age at onset of epilepsy, pharmacoresistance, and cognitive outcomes: A prospective cohort study

(2012) A. T. Berg et al.   NEUROLOGY

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

(2012) I.-T. J. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

Confirmation of multiple seizure susceptibility QTLs on chromosome 15 in C57BL/6J and DBA/2J inbred mice

(2010) T. N. Ferraro et al.   PHYSIOLOGICAL GENOMICS

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

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN

The three stages of epilepsy in patients withCDKL5mutations

(2008) Nadia Bahi-Buisson et al.   EPILEPSIA

Global cognitive function in children with epilepsy: A community-based study

(2008) Anne T. Berg et al.   EPILEPSIA