Results 161 to 170 of about 39,488 (289)

KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review

Life
Pathogenic variants in the NEXMIF gene are associated with a broad neurodevelopmental phenotype, including autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy.
Catalina Mihaela Anastasescu, Veronica Gheorman, Simona Viorica Godeanu, Adriana Cojocaru, Floris Petru Iliuta, Mioara Desdemona Stepan, Victor Gheorman   +6 more
doaj   +1 more source

A Systematic Review and Meta‐Analysis of Psychological Therapies for Avoidant/Restrictive Food Intake Disorder (ARFID) in Adolescents and Adults

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective The efficacy of psychological therapies for adolescents and adults with avoidant/restrictive food intake disorder (ARFID) has yet to be rigorously analyzed through systematic review or meta‐analysis. Method We identified articles from seven databases that presented psychological therapies for adolescents and adults with ARFID. First,
Copeland G. Winten, Esben Strodl, P. Evelyna Kambanis, Lynda J. Ross, Jennifer J. Thomas   +4 more
wiley   +1 more source

Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism. [PDF]

, 2019
BackgroundAutism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS.
Bishop, Somer L, Roberts, Jane E, Will, Elizabeth A   +2 more
core   +1 more source

Altered neurostructural development in magnetic resonance imaging‐negative pediatric epilepsy: A large‐scale multicenter study of 1919 children

Epilepsia, EarlyView.
Abstract Objective Addressing the poorly understood impact of pediatric epilepsy on neurodevelopment, this large‐scale study delineates age‐ and sex‐stratified neurostructural trajectories in magnetic resonance imaging (MRI)‐negative pediatric epilepsy to identify periods of maximal developmental divergence from healthy controls.
Yingfan Wang, Minghao Li, Huijun Li, Wei Yu, Peilin Jiang, Xinyi Zhou, Ke Hu, Feng Yang, Jiu Chen, Ming Yang, Xiaoshan Wang   +10 more
wiley   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Autism spectrum disorder: Fractionable or coherent? [PDF]

, 2013
Bowler, Dermot M., Williams, David M.
core   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends

Orphanet Journal of Rare Diseases
Background KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene.
Rowena Ng, Allison J Kalinousky, Jacqueline Harris   +2 more
doaj   +1 more source

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer, M. Scott Perry, Joseph Sullivan, Susana Boronat, James Wheless, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer M. Zuberi, Rebecca Shaffer, Mary Wojnaroski, Madison M. Berl, Sarah Christensen, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +26 more
wiley   +1 more source