Results 81 to 90 of about 9,569 (209)
Epilepsia, Volume 67, Issue 6, Page 3082-3107, June 2026.Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk +8 more
wiley +1 more source
Communication in Angelman syndrome
, 2019 The absence of speech in Angelman syndrome is striking and widely recognised by those familiar with the syndrome but the specificity of communicative impairment is not well documented.
Pearson, Effie
core
Angelman Syndrome and Epilepsy
, 1993 Characteristic epileptic seizures and EEG abnormalities are reported in three siblings with Angelman syndrome from the Kansai University Otokoyoma Hospital, Kyoto; and the Nagasaki University School of Medicine ...
J Gordon Millichap
core +1 more source
Epilepsia Open, Volume 11, Issue 3, Page 1046-1053, June 2026.Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli +14 more
wiley +1 more source
PLoS ONEBackgroundFor people with intellectual and developmental disabilities, other's perceptions of them based on their condition often begin before birth and go on to impact relationships, opportunities, and self perception across the life course.
Lillian J Droscha +4 more
doaj +1 more source
Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
Cell Proliferation, Volume 59, Issue 6, June 2026.To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley +1 more source
Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld +6 more
wiley +1 more source