Results 231 to 240 of about 39,488 (289)

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Na_vigating Phenotypic Characterization and CRISPRa Restoration for <i>SCN2A</i> Haploinsufficiency Disorders. [PDF]

Epilepsy Curr
Wong JC.
europepmc   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Filled Pause Use in Autistic Adults and Their First-Degree Relatives: Gender Differences and Within-Family Associations. [PDF]

J Speech Lang Hear Res
Friedman L, Maltman N, Sterling A, Hudock RL, DaWalt LS.   +4 more
europepmc   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome. [PDF]

Hum Genome Var
Hirai S, Mitsubuchi H, Matsumoto S.
europepmc   +1 more source

Hospital admissions and school absences of primary school children with and without neurodisability

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To inform integrated support by education and health services by comparing hospitalization and school absence rates during primary school in children with and without neurodisability. Method In this linked administrative data cohort study, we followed 2 351 589 children born in England between 2003 and 2008 from enrolment in Reception ...
Laura Gimeno, Ania Zylbersztejn, Ayana Cant, Ruth Gilbert, Katie Harron, on behalf of the HOPE Study Group, Sarah Barnes, Kate Boddy, Kristine Black‐Hawkins, Lorraine Dearden, Bianca De Stavola, Johnny Downs, William Farr, Tamsin Ford, Lucy Karwatowska, Kate Lewis, Matthew Lilliman, Jacob Matthews, Stuart Logan, Vincent Nguyen, Jugnoo Rahi, Jennifer Saxton, Joachim Tan, Isaac Winterburn   +23 more
wiley   +1 more source

ADHD polygenic risk predicts neural signatures of cognitive control: Evidence from midfrontal theta dynamics. [PDF]

Transl Psychiatry
Aydin Ü, Wang Z, Gyurkovics M, Tong A, Cullen G, Ahmed S, Palmer J, McLoughlin G.   +7 more
europepmc   +1 more source