Results 201 to 210 of about 24,165 (274)

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

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

Developmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda, Pien M. M. Weerkamp, Anna Kolesnik, Chloe Geagan, Daniela Chieffo, Mariana Suárez‐Bagnasco, David Skuse, Elizabeth Vroom, Erik H. Niks, John Vissing, Isabelle Desguerre, Volker Straub, Francesco Muntoni, Eugenio Mercuri, Jos G. M. Hendriksen, on behalf of BIND Consortium, Nathalie Angeard, Dimitrios Athanasiou, Suzie‐Ann Bakker, Nathalie Boddaert, Ellie Drummond, Chloe Durrlemann, Fernanda Fortunato, Luis Miguel García‐Moreno, Mattia Gervasi, Rosanne Govaart, Irina Guliaeva, Catherine Hankinson, Leslie Hemar, Rebecca Hendel, Hermien Kan, Leevi Kerkela, Gregory Landon, Monika Malinova, William Mandy, Federica Moriconi, Monia Pellizzari, Sarah Poncet, Elvina Sakellariou, Sergiu Siminiuc, Anna Würgler Slipsager, Lily Smythe, Pietro Spitali, Mads Peter Godtfeldt Stemmerik, Asmus Vogel, Jeanne Wolstencroft, Camilla Zanetti   +46 more
wiley   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders. [PDF]

Front Psychiatry
Chawner S, Chetcuti LC, Spackman EK, Uljarevic M.   +3 more
europepmc   +1 more source

Performance outcomes of the PEDI‐CAT for assessing functional ability in the population with leukodystrophy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the use of the Pediatric Evaluation of Disability Index‐Computer Adapted Test (PEDI‐CAT), a parent‐reported outcome, and determine functional performance in a cohort with leukodystrophy. Method This was a cross‐sectional observational study.
Stacy V. Cusack, Allan M. Glanzman, Francesco Gavazzi, Sarah Woidill, Abbas F. Jawad, Timothy Estilow, Amy T. Waldman, Adeline Vanderver, Laura Adang, Children's Hospital of Philadelphia Leukodystrophy Workgroup, Todd Levy, Michelle Fitzgerald, Ann T. Harrington, Emma McKenzie, Elizabeth Balance, Tracy Kornafel, Kaleb Kelley, Peter Hong, Sarah Pham, Aaliyah White, Miriam Lerner   +20 more
wiley   +1 more source

The R203W substitution drives PACS‐1 syndrome by disrupting intramolecular regulation

The FEBS Journal, EarlyView.
The middle region (MR) of PACS‐1 controls engagement with specific partner proteins. This manuscript presents the structure of the Furin binding region (FBR) and how interactions with partners are regulated through the interplay between a basic patch in the FBR and an acidic cluster in the MR.
Troy C. Krzysiak, In‐Ja L. Byeon, Ryan Ponticelli, Mary E. Lucas, Lariah Thompson, Christopher DeHaven, Gary Thomas, Angela M. Gronenborn   +7 more
wiley   +1 more source

Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study. [PDF]

Children (Basel)
Yaneva A, Levkova M, Stoyanova M, Hachmeriyan M, Angelova L, Pancheva R.   +5 more
europepmc   +1 more source

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

The FEBS Journal, EarlyView.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast, Christian Werner, Karsten Niefind, Joachim Jose   +3 more
wiley   +1 more source

Bringing cellular clarity to the cortical component of ALS with a high‐density multi‐electrode array system

The FEBS Journal, EarlyView.
High density multi‐electrode (HD‐MEA) systems enable detailed investigation of healthy and diseased brains in 2D and 3D. Here, we summarise the significance of single‐cell electrophysiology, advantages of the MEA systems with high spatio‐temporal resolution and a large number of recording sites, enabling complex network analysis.
Zehra Yagmur Erol, Christopher Quintanilla, P. Hande Ozdinler   +2 more
wiley   +1 more source

Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More than Other Broad Autism Phenotype Traits. [PDF]

Genes (Basel)
Lodi MK, Flax JF, Gwin C, Wilson S, Robinson A, Buyske S, Brzustowicz LM, Xing J, Bartlett CW.   +8 more
europepmc   +1 more source