Results 51 to 60 of about 9,448 (189)

Surgical extraction of a supernumerary tooth in a patient with Angelman syndrome - case report

Journal of Education, Health and Sport, 2020
The article discusses the problem of dental-occlusal disorders in patients with rare Angelman syndrome, based on the case report of an 8-year-old patient.
Małgorzata Lipczyńska-Lewandowska, Damian Chybicki, Gaja Torbicka, Michał Ceranka, Anna Janas-Naze   +4 more
doaj   +1 more source

Síndrome de Angelman Angelman Syndrome

Revista Cubana de Medicina General Integral, 2012
Se realiza la presentación de un caso de síndrome de Angelman, diagnosticado y confirmado por pruebas genéticas, que realizó su rehabilitación en el centro "Senén Casas Regueiro" de La Habana Vieja. La paciente fue diagnosticada con una parálisis cerebral y posteriormente, a partir del estudio realizado a personas con retraso mental y otras ...
Lázara Caridad Faife Abril, Ivón Victoria Mayo Chirino   +1 more
openaire   +1 more source

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

Psychiatry and Clinical Neurosciences, EarlyView.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang, Kubra Trabzonlu, Emily Fullard Jones, Yasir Ahmed Syed   +3 more
wiley   +1 more source

A patogênese genética e molecular da síndrome de Angelman

Jornal Brasileiro de Psiquiatria, 2011
Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência ...
Angelica Francesca Maris, Alexis Trott
doaj   +1 more source

R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report

Clinical Pathology, 2022
Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi   +4 more
doaj   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Strabismus surgery in Angelman syndrome: More than ocular alignment.

PLoS ONE, 2020
PurposeTo report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between ...
Paola Michieletto, Stefano Pensiero, Laura Diplotti, Luca Ronfani, Manuela Giangreco, Alberto Danieli, Paolo Bonanni   +6 more
doaj   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, Volume 11, Issue 1, Page 291-321, February 2026.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source