Results 251 to 260 of about 2,601,816 (350)

What types of meaningful occupations are most effective in promoting social inclusion and wellbeing for adults with intellectual disabilities, such as Down syndrome?

Tripdatabase
openalex   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome. [PDF]

Neurol Genet, 2017
Striano P, Zara F.
europepmc   +1 more source

What are the positive and negative impacts of day activities on the social inclusion of adults with intellectual disabilities, including those with Down syndrome?

Tripdatabase
openalex   +1 more source

Strengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review [PDF]

Isabela Amaral de Almeida Bistafa, Marco Antônio Ribeiro Filho, Ana Caroline dos Santos Costa, Ana Flávia Pimenta Saad, Rauer Ferreira Franco, Janaína Aparecida de Sales Floriano, Emerson Roberto dos Santos, João Daniel de Souza Menezes, Matheus Querino da Silva, Daniele Nunes Longhi Aleixo, Eliana Fazuoli Chubaci, Alfredo Stefani, William Donegá Martinez, Pedro Belchior da Silveira Junior, Ana Mirtes Zecchin, Nathália Bavaresco Gonçalves Cristóvão, Alex Bertolazzo Quitério, Renato Mendonça Ribeiro, Denise Cristina Mós Vaz-Oliani, Antônio Hélio Oliani, Maysa Alahmar Bianchin, Luís César Fava Spessoto, Rita de Cássia Helú Mendonça Ribeiro, Júlio César André   +23 more
openalex   +1 more source

Evolution from reflex myoclonic epilepsy of infancy to childhood absence epilepsy in NRXN1‐related disorder

Epileptic Disorders, EarlyView.
Shanine Kamgang, Kenneth A. Myers
wiley   +1 more source

How do daytime activities influence the social inclusion of adults with intellectual disabilities such as Down syndrome?

Tripdatabase
openalex   +1 more source

Macrocephaly-intellectual disability-autism syndrome [PDF]

, 2020
openaire   +1 more source

Persistence of electroclinical findings in an adult patient with SETD1B‐related epilepsy

Epileptic Disorders, EarlyView.
Rohan Shankar, Abdulrahman Bukhari, Irfan S. Sheikh   +2 more
wiley   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source