CDKL5 deficiency disorder: clinical features, diagnosis, and management
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 …
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …
Cyclin-dependent kinase-like 5 deficiency disorder: clinical review
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial
Background CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and
epileptic encephalopathy characterised by severe global developmental impairment and …
epileptic encephalopathy characterised by severe global developmental impairment and …
Identification of an elaborate complex mediating postsynaptic inhibition
A Uezu, DJ Kanak, TWA Bradshaw, EJ Soderblom… - Science, 2016 - science.org
Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. The
composition of the inhibitory postsynapse and the mechanistic basis of its regulation …
composition of the inhibitory postsynapse and the mechanistic basis of its regulation …
Quantitative phosphoproteomic analysis of the molecular substrates of sleep need
Z Wang, J Ma, C Miyoshi, Y Li, M Sato, Y Ogawa, T Lou… - Nature, 2018 - nature.com
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 …
neuronal activities to synaptic plasticity,,,–. Sleep–wake homeostasis is maintained by the …
Rett syndrome: a neurological disorder with metabolic components
SM Kyle, N Vashi, MJ Justice - Open biology, 2018 - royalsocietypublishing.org
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 …
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
N Trump, A McTague, H Brittain… - Journal of medical …, 2016 - jmg.bmj.com
Background We sought to investigate the diagnostic yield and mutation spectrum in
previously reported genes for early-onset epilepsy and disorders of severe developmental …
previously reported genes for early-onset epilepsy and disorders of severe developmental …
Clinical and biological progress over 50 years in Rett syndrome
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) …
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
[HTML][HTML] The gut-brain connection: Exploring the influence of the gut microbiota on neuroplasticity and neurodevelopmental disorders
Neuroplasticity refers to the ability of brain circuits to reorganize and change the properties
of the network, resulting in alterations in brain function and behavior. It is traditionally …
of the network, resulting in alterations in brain function and behavior. It is traditionally …