CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …

Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …

Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Background CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and
epileptic encephalopathy characterised by severe global developmental impairment and …

Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. The
composition of the inhibitory postsynapse and the mechanistic basis of its regulation …

Sleep and wake have global effects on brain physiology, from molecular changes,,–and
neuronal activities to synaptic plasticity,,,–. Sleep–wake homeostasis is maintained by the …

Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …

Background We sought to investigate the diagnostic yield and mutation spectrum in
previously reported genes for early-onset epilepsy and disorders of severe developmental …

In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily
affects females. Mutations in the MECP2 gene have been attributed as the major genetic …