Results 231 to 240 of about 194,399 (303)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Efficacy of 3D-printed surgical guides in the correction of pediatric cubitus varus deformity: a systematic review and meta-analysis. [PDF]

JSES Int
Salkhori O, Bagheri N, Khabiri SS, Arabzadeh A, Kalantar SH, Poorghasem E, Irani PT, Talebi A, Mortazavi SM, Naghizadeh H.   +9 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Spatial and Temporal Factors Influencing Fixational Saccades. [PDF]

J Neurosci
Wang JZ, Cherici C, Rucci M.
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Bodily awareness predicts functional improvement and injury risk in elite long-distance runners: a prospective study. [PDF]

Front Psychol
Murofushi K, Mitomo S, Yamada Y, Hirohata K, Furuya H, Katagiri H, Akuzawa H, Hara S, Ito M, Kaneoka K.   +9 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Proactive fault prediction in marine diesel engines using multivariate machine learning. [PDF]

Sci Rep
Michel M, Mehanna A, Saleh SN, Shehata AS.   +3 more
europepmc   +1 more source

Importance of Intraoperative Neuromonitoring for Corrective Surgery in Patients with Adolescent Idiopathic Scoliosis. [PDF]

J Clin Med
Chen BJ, Tanaka M, Nakagawa T, Arataki S, Komatsubara T, Miyamoto A, Gurudip D, Patil M, Uotani K, Oda Y, Shinohara K, Sakaguchi T.   +11 more
europepmc   +1 more source

Strengthening antimicrobial resistance diagnostics in National Reference Laboratories across One Health in South and Southeast Asia: impact of external quality assessment and targeted follow-up. [PDF]

J Antimicrob Chemother
Abegaz FA, Al-Mir H, Kostyanev T, Prifti K, Kwon SY, Guarnacci T, Rasmussen LB, Sujan MJ, Teixeira Dos Santos P, Prathan R, Luangtongkum T, Chanchaitong P, Santanirand P, Kamjumpho W, Mogeni OD, Holm M, Marks F, Chuanchuen R, Hendriksen RS, Poudyal N.   +19 more
europepmc   +1 more source