Results 161 to 170 of about 7,037 (201)

Syndrome‐specific and familial imaging traits in juvenile absence epilepsy

Epilepsia, EarlyView.
Abstract Objective Juvenile absence epilepsy (JAE) is an idiopathic generalized epilepsy characterized by absences, generalized tonic–clonic seizures, and cognitive difficulties. In contrast to juvenile myoclonic epilepsy (JME), where distinct functional and structural brain alterations are well established, it remains unclear whether comparable ...
Fenglai Xiao, Lorenzo Caciagli, Luisa Delazer, Sjoerd Vos, Karin Trimmel, Louis Andre Van Graan, Marine Fleury, Lawrence Binding, Davide Giampiccolo, Dominic Heaney, Sanjeev Rajakulendran, Maria Centeno, Josemir W. Sander, John S. Duncan, Matthias J. Koepp, Britta Wandschneider   +15 more
wiley   +1 more source

3D point cloud lithology identification based on stratigraphically constrained continuous clustering. [PDF]

Sci Rep
Gan B, Jing R, Shao Y, Liu Y, Duan X, Li P, Li L.   +6 more
europepmc   +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

Semi-automated genomic newborn screening highlights complexities in reporting. [PDF]

NPJ Genom Med
Chowdhury A, Marri S, Anastasi L, Ashenden A, Rozek T, Feng J, DeJong L, Kenyon R, Kaczorowski D, Nguyen H, Lam K, Stallard K, Merlin T, Ranieri E, De Sousa S, Smith N, Kulkarni A, Saxon B, Bratkovic D, Barnett C, Siu CW, Scott HS, King J, Kassahn KS.   +23 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

Selecting optimal software code descriptors-The case of Java. [PDF]

PLoS One
Bugayenko Y, Kholmatova Z, Kruglov A, Pedrycz W, Succi G.   +4 more
europepmc   +1 more source

Machine Learning and Artificial Intelligence Techniques for Intelligent Control and Forecasting in Energy Storage‐Based Power Systems

Energy Science &Engineering, EarlyView.
A new energy paradigm assisted by AI. ABSTRACT The tremendous penetration of renewable energy sources and the integration of power electronics components increase the complexity of the operation and power system control. The advancements in Artificial Intelligence and machine learning have demonstrated proficiency in processing tasks requiring ...
Balasundaram Bharaneedharan, Suresh Panchanathan, Chan Choon Kit, Elumalai Perumal Venkatesan, Nasim Hasan   +4 more
wiley   +1 more source

SwarmGenomics: A Unified Pipeline for Individual-Based Whole-Genome Analyses. [PDF]

Mol Ecol Resour
Kylmänen A, Chen YC, Javaheri Tehrani S, Vellnow N, Wilcox JJS, Gossmann TI.   +5 more
europepmc   +1 more source