Current and emerging treatment options for Angelman syndrome

CJ Keary, CJ McDougle - Expert Review of Neurotherapeutics, 2023 - Taylor & Francis
Introduction Angelman syndrome (AS) is a neurodevelopmental disorder characterized by
intellectual disability, limited expressive language, epilepsy, and motor impairment …

'It's especially good just to know that you're not the only one': a qualitative study exploring experiences with online peer support programmes for the Fragile X …

T Haber, L Davies, RS Hinman… - Journal of …, 2025 - Wiley Online Library
Background Accessing peer support can be difficult for people with, or carers of people with,
inherited intellectual disabilities. One way to improve access is to provide services online …

Child characteristics associated with child quality of life and parenting stress in Angelman syndrome

DA Hagenaar, K Bindels‐de Heus… - Journal of …, 2024 - Wiley Online Library
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised
by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and …

Stimulant intolerance in children with Angelman syndrome with hyperactivity: a case series

CJ Keary, RP Thom, CJ McDougle - Psychiatric Genetics, 2022 - journals.lww.com
Objectives Angelman syndrome is a neurogenetic disorder resulting from the loss of
expression of the ubiquitin-protein ligase E3A gene on chromosome 15. Problematic …

Quality of Life in Angelman Syndrome: A Caregivers' Survey

NY Xia, ML Grant, NL Benjamin, I Valencia - Pediatric neurology, 2023 - Elsevier
Background Angelman syndrome (AS) is a genetic disorder, characterized by a cheerful
disposition with bouts of laughter, developmental delay, speech impairment, ataxia, and …

The hippocampal response to acute corticosterone elevation is altered in a mouse model for Angelman syndrome

EMG Viho, AM Punt, B Distel, R Houtman… - International journal of …, 2022 - mdpi.com
Angelman Syndrome (AS) is a severe neurodevelopmental disorder, caused by the
neuronal absence of the ubiquitin protein ligase E3A (UBE3A). UBE3A promotes ubiquitin …

[PDF][PDF] Punt

EMG Viho - M., Distel, B., Houtman, R., Kroon …, 2023 - scholarlypublications …
Angelman Syndrome (AS) is a severe neurodevelopmental disorder, caused by the
neuronal absence of the ubiquitin protein ligase E3A (UBE3A). UBE3A promotes ubiquitin …

[PDF][PDF] ter

LW ten Hoopen, AB Rietman, PFA de Nijs… - Karen Bindels-de …, 2024 - pure.eur.nl
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised
by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and …

Christopher J. Keary, Nicole Simon, and Amanda Tourjee

RP Thom, CJ McDougle - Neuropsychiatric Care for Genetic Syndromes and … - Springer
Angelman syndrome (AS) is a neurodevelopmental disorder that results in severeto-
profound intellectual disability (ID), gross and fine motor deficits, minimal expressive …

[PDF][PDF] RAHUEL Hélène

A ROCHET-CAPELLAN, M DOHEN - angelman-afsa.org
Angelman Syndrome (AS) is a rare neurogenetic disorder that results in massive motor,
cognitive and language impairments. Individuals with AS employ multimodal forms of …