Results 41 to 50 of about 7,634 (165)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

Epilepsia Open, EarlyView.
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, Adolfo Mazzeo, Marco Perulli, Georgia Ramantani, Domenica Battaglia, Irene Bagnasco, Erica Cognolato, Pasquale Striano, Susanna Negrin, Alberto Danieli, Paolo Bonanni, Francesca F. Operto, Carlo Di Bonaventura, Antonietta Coppola, Alessandro Orsini   +14 more
wiley   +1 more source

Angelman Syndrome

Revista Información Científica, 2022
Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance ...
Daniela Abigail Cobo-Álvarez, Ana Cristina Veloz-Pico, Alejandro Sebastián Samaniego-Vargas   +2 more
doaj  

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
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

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory

Journal of Patient-Reported Outcomes
Aims Caregivers rate improved communication ability as one of the most desired outcomes for successful interventions for individuals with Angelman syndrome (AS). When measuring communication ability in clinical trials, the reliability of such measures is
Dandan Chen, Christina K. Zigler, Li Lin, Nicole Lucas, Molly McFatrich, Jennifer Panagoulias, Allyson Berent, Bryce B. Reeve   +7 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

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
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, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

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