Results 71 to 80 of about 7,634 (165)

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research

Frontiers in Neurology
ImportanceMultidisciplinary clinics (MDCs) improve care for patients with complex, comorbid conditions through coordinated, team-based care. Despite their potential, MDCs remain underutilized and understudied in pediatric neurology, particularly for ...
Carole Bakhos, Christal G. Delagrammatikas, Scott Demarest, Yssa DeWoody, Tuesdi Dyer, Ilene Penn Miller, Amanda Moore, Ashley Fortney Point, Charlene Son Rigby, Charlene Son Rigby, Jackie Steinberg, Vanessa Vogel-Farley, Kimberly Wiltrout   +12 more
doaj   +1 more source

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Angelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile.
Robert P. Carson, Lynne Bird, Anna K. Childers, Ferrin Wheeler, Jessica Duis   +4 more
doaj   +1 more source

Características clínicas de dos probables casos de síndrome de Angelman en el Hospital Nacional de Niños

Acta Médica Costarricense, 2004
Justificación y objetivo: El síndrome de Angelman, es un severo desorden neurológico. No existe ningún caso previamente reportado en el país. Método: Reportamos 2 niñas con sospecha clínica de padecer de síndrome de Angelman.
Marvin Midence Cerda, Roberto Brian Gago
doaj  

Exploring an objective measure of overactivity in children with rare genetic syndromes

Journal of Neurodevelopmental Disorders
Background Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques ...
Rory O’Sullivan, Stacey Bissell, Georgie Agar, Jayne Spiller, Andrew Surtees, Mary Heald, Emma Clarkson, Aamina Khan, Christopher Oliver, Andrew P. Bagshaw, Caroline Richards   +10 more
doaj   +1 more source

Gastrointestinal manifestations in Angelman syndrome with accompanying epilepsy: a pediatric case report

Egyptian Pediatric Association Gazette
Background Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by developmental delay, seizures, and a distinctive behavioral profile including frequent laughter and hyperactivity. Although neurological symptoms are typically emphasized,
Kamil Aleksander Sobieszek, Patrycja Idzik   +1 more
doaj   +1 more source

The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice

Scientific Reports
Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of
Kellan P. Weston, Anna M. Gunelson, Susan E. Maloney, Xia Ge, Jalin A. Stelzer, Kwang-Soo Kim, Shylyn Collier, Marissa M. Mindt, Megan J. Agajanian, Michael B. Major, Dennis Goldfarb, Kevin K. Noguchi, Jason J. Yi   +12 more
doaj   +1 more source

Angelman syndrome [PDF]

, 2020
openaire   +2 more sources

Behavior and neuropsychiatric manifestations in Angelman syndrome

Neuropsychiatric Disease and Treatment, 2008
Karine Pelc1, Guy Cheron2, Bernard Dan1,21Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics ...
Karine Pelc, Guy Cheron, Bernard Dan
doaj  

A dual-reporter mouse for therapeutic discovery in Angelman syndrome. [PDF]

JCI Insight
Vihma H, James LM, Nourie HC, Smith AL, Liang S, Friar CA, Vulli T, Xing L, Cowley DO, Burette AC, Philpot BD.   +10 more
europepmc   +1 more source

Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study. [PDF]

J Neurodev Disord
Leffler M, Woods RJ, Sapp A, Zigler CK, Komorowski R, Crean R, Bird LM, Merton CF, Booman AJ, O'Sullivan JD, Sheehy KA, Duis J, Tan WH, Sadhwani A.   +13 more
europepmc   +1 more source