Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model
Epilepsia, EarlyView.Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov +10 more
wiley +1 more source
Arbaclofen in fragile X syndrome: results of phase 3 trials [PDF]
, 2017 Background: Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study.
Bear, Mark +10 more
core +3 more sources
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities [PDF]
, 2011 The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states
Adams, Dawn, Christopher, Oliver
core +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Primary Ciliary Deficits in the Dentate Gyrus of Fragile X Syndrome [PDF]
, 2020 Bumwhee Lee, Shree Panda, Hye Young Lee
openalex +1 more source
Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]
, 2014 BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul +5 more
core +2 more sources
iNew Medicine, EarlyView.This review traces the evolution of functional biliary stents, outlining the paradigm shift from “active intervention” strategies that target stent failure to next‐generation “enabling platforms.” These platforms leverage biodegradable materials, 3D/4D printing, and smart sensors to achieve personalized, regenerative, and theranostic solutions ...
Muhan Li +4 more
wiley +1 more source
Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]
, 2016 Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua +6 more
core +3 more sources
Tactile hypo‐responsivity in autism: Examining potential for diagnostic relevance
JCPP Advances, EarlyView.The study reported in this paper examined the utility of a brief tactile reactivity assessment in differentiating autistic children from those with other neurodevelopmental concerns and the association between tactile responsivity, autism symptomatology, developmental level, and adaptive skills.
Girija Kadlaskar +4 more
wiley +1 more source