Results 151 to 160 of about 43,167 (288)

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1. [PDF]

Cells, 2022
Cresto N, Lebrun N, Dumont F, Letourneur F, Billuart P, Rouach N.   +5 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. [PDF]

PLoS One, 2021
Bengani H, Grozeva D, Moyon L, Bhatia S, Louros SR, Hope J, Jackson A, Prendergast JG, Owen LJ, Naville M, Rainger J, Grimes G, Halachev M, Murphy LC, Spasic-Boskovic O, van Heyningen V, Kind P, Abbott CM, Osterweil E, Raymond FL, Roest Crollius H, FitzPatrick DR.   +21 more
europepmc   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Brain–Computer Interfaces: The Dawn of a New Era in Disease Treatment

Exploration, EarlyView.
This study investigates the potential of brain–computer interface (BCI) technology in treating neuropsychiatric disorders, such as movement and communication barriers. Our review examines the history, signal paradigms, and diverse applications of BCI while also discussing ongoing research into novel materials and emerging technologies that offer ...
Yuqi Feng, Wangzheqi Zhang, Jun Chen, Huang Wu, Lei Wu, Yanhao Qiu, Xiaoming Deng, Chenglong Zhu, Yisheng Chen, Zhijie Zhao, Changli Wang, Xiaomin Zhang   +11 more
wiley   +1 more source

Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability. [PDF]

Sci Adv, 2021
Nagayoshi Y, Chujo T, Hirata S, Nakatsuka H, Chen CW, Takakura M, Miyauchi K, Ikeuchi Y, Carlyle BC, Kitchen RR, Suzuki T, Katsuoka F, Yamamoto M, Goto Y, Tanaka M, Natsume K, Nairn AC, Suzuki T, Tomizawa K, Wei FY.   +19 more
europepmc   +1 more source

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Recent advances in multifunctional soft robots: A materials–structures–systems co‐design perspective for synergistic integration

FlexMat, EarlyView.
Abstract Soft robots, engineered from highly compliant materials, offer superior adaptability and safety in unstructured environments compared to their rigid counterparts. Recent advancements, fueled by bio‐inspiration and material programmability, have led to the rapid co‐evolution of their core modules: actuation, sensing, protection, energy, and ...
Qiulei Liu, Zicao Peng, Chong Sun, Haitao Yang   +3 more
wiley   +1 more source