Results 71 to 80 of about 17,625 (287)

Treatment of Symptomatic Infantile Spasms

Pediatric Neurology Briefs, 2013
Investigators at Tokyo Women's Medical University studied the clinical, radiological, and EEG characteristics of 69 patients with infantile spasms (IS) followed for 3-74 months (mean 18 months) after initial cessation of epileptic spasms (ES).
J Gordon Millichap
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]

, 2013
The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia, A. Quartini, BERSANI, Giuseppe, C. Colletti, E. Prinzivalli, F. S. Bersani, G. Valeriani   +6 more
core  

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]

, 2014
Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu, Du, Xiaonan, Guo, Xiaohong, Jiang, Yong-hui, Liu, Renchao, Qin, Yanrong, Sun, Daokan, Wang, Yi, Wu, Bailin, Yu, Lifei, Zhou, Shuizhen   +10 more
core   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Theophylline-Induced Infantile Spasms

Pediatric Neurology Briefs, 1995
Infantile spasms and hypsarrhythmia developed in a 6-month-old infant with asthma after 3 days treatment with theophylline at the Royal Belfast Hospital for Sick Children, Northern Ireland.
J Gordon Millichap
doaj   +1 more source

Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]

, 2017
PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC, O'Callaghan, FJK, Wilmshurst, JM   +2 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source