Results 111 to 120 of about 1,536,733 (206)

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 and thyroid dysfunction

, 2012
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the diagnosis.
Corona-Rivera, A., Bobadilla-Morales, L., Pimentel-Gutierrez, H.J., Corona-Rivera, J.R., Monterrubio-Ledezma, C.E.   +4 more
core   +1 more source

Impaired Kv4.2-DPP6 complex dynamics in a mouse model of Angelman syndrome. [PDF]

Front Cell Neurosci
Hu JH, Liu Y, Malloy C, Hoffman DA.
europepmc   +1 more source

Non-Pharmacological Sleep Interventions for Children with Angelman Syndrome: A Scoping Review

Exploring Sleep Interventions in Children with Angelman Syndrome (pharmacological, behavioral, sensory, environmental, caregiver ...
Joseph Barrett
core   +1 more source

Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model. [PDF]

Transl Psychiatry
Scorrano M, Montagni E, Legesse AT, Iovino L, De Cesari C, Tonazzini I, Allegra Mascaro AL, Baroncelli L.   +7 more
europepmc   +1 more source

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model. [PDF]

Hum Mol Genet
Coffell A, Schuller L, Christian S, Dindot SV.   +3 more
europepmc   +1 more source

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review. [PDF]

J Intellect Disabil Res
Vozka V, Neo WS, Yatcilla JK, McCormick CEB, Harold R, Gálvez-Ortega K, Dey M, Fitzpatrick LE, Schwichtenberg AJ, Hoilett OS, Foti D, Kelleher BL.   +11 more
europepmc   +1 more source

Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life. [PDF]

J Neurodev Disord
Domaradzki J, Walkowiak D.
europepmc   +1 more source

Cortical Hyperexcitability Shapes Large-Scale Brain Dynamics and Behavioral Outcome in Angelman Syndrome. [PDF]

Biol Psychiatry Glob Open Sci
Duma GM, Bagnoli M, Stefanelli G, Mazzara C, Pellegrino G, Mento G, Sorrentino P, Toffoli L, Del Popolo Cristaldi F, Antoniazzi L, Azzolini R, Dei Tos J, Baggio M, Bonanni P, Danie A.   +14 more
europepmc   +1 more source