Results 201 to 210 of about 279,548 (296)

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

Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders. [PDF]

Biomedicines
De Giacomo A, Lionetti N, Di Lago MG, Simonetti S, Iapadre G, Rizzello A, Sanginario V, Gradia F, Tansella D, Vitullo E, Simone M, Sardella D, Lorè T, Cardinali R, Russo S, Salpietro V, Scacco S, Delvecchio M, Gnoni A.   +18 more
europepmc   +1 more source

Cognition in adults with bottom‐of‐sulcus dysplasia and the consequences of focal resection

Epilepsia, EarlyView.
Abstract Objective To determine whether there are cognitive consequences of bottom‐of‐sulcus dysplasia (BOSD) when assessed as adults and whether focal resection of these lesions leads to change in cognition. Methods We studied 42 adults, of whom 39 underwent focal resection targeting the lesion.
Carmen J. Zheng, David Weintrob, Marie O'Shea, Graeme D. Jackson, Chris Tailby   +4 more
wiley   +1 more source

Divergent Trajectories of Youth Mental Health in Emerging Economies: A Global Burden of Disease Analysis of Anxiety and Autism Spectrum Disorders in BRICS Nations (1990-2030). [PDF]

Psychol Res Behav Manag
Wen J.
europepmc   +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

Maternal factors contributing to variability in gut microbiota and gastrointestinal function in autism spectrum disorders. [PDF]

World J Psychiatry
Wang XX.
europepmc   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

Epilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing, Lirong Han, Dongjun Guo, Thomas J. Foutz, Michael Wong   +4 more
wiley   +1 more source

Co-exposure to lead and cadmium is associated with increased severity of social deficits in children with autism spectrum disorders. [PDF]

Front Nutr
Mao H, Qian Y, Su Y, Liu X, Nie X, Cai Y.   +5 more
europepmc   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Molecular basis of autism spectrum disorders. [PDF]

Mol Biol Rep
Desai R, Reddy S, Truong M, Thankam FG.
europepmc   +1 more source