Results 81 to 90 of about 9,861 (247)

Anesthetic experience of a patient with Ohtahara syndrome -A case report- [PDF]

Korean Journal of Anesthesiology, 2011
Ohtahara syndrome (OS) is a rare epileptic encephalopathy that is characterized by an abnormal electroencephalogram (EEG) and intractable seizures in the neonatal and early infantile period.
Eun Mi Choi, Kyeong Tae Min, Jin Sun Cho, Seung Ho Choi   +3 more
doaj   +1 more source

Increased propensity for infantile spasms and altered neocortical excitation-inhibition balance in a mouse model of down syndrome carrying human chromosome 21

Neurobiology of Disease, 2023
Children with Down syndrome (DS, trisomy of chromosome 21) have an increased risk of infantile spasms (IS). As an epileptic encephalopathy, IS may further impair cognitive function and exacerbate neurodevelopmental delays already present in children with
Li-Rong Shao, Feng Gao, Viveka Chinnasamy, Yasuhiro Kazuki, Mistuo Oshimura, Roger H. Reeves, Carl E. Stafstrom   +6 more
doaj   +1 more source

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

Epilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi, Maren Kimura, Bamby Joseph, Alina Zhao, Diane L. Lorenzetti, Dang K. Nguyen, Mark Keezer, Colin B. Josephson, Nathalie Jetté   +8 more
wiley   +1 more source

Long-term prenatal stress increases susceptibility of N-methyl-D-aspartic acid-induced spasms in infant rats [PDF]

Korean Journal of Pediatrics, 2018
PurposeInfantile spasms, also known as West syndrome, is an age-specific epileptic seizure. Most patients with this condition also exhibit delayed development.
Hyeok Hee Kwon, Taekwan Lee, Jinpyo Hong, Dong Woon Kim, Joon Won Kang   +4 more
doaj   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]

, 2016
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R, Constanti, A, Leo, A, Russo, E, Sarro, G   +4 more
core   +1 more source

WONOEP appraisal: New genetic approaches to study epilepsy [PDF]

, 2014
New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming, and optogenetic manipulations within epileptic
Albert J. Becker, Elsa Rossignol, Jeffrey A. Loeb, Jonathan Vinet, Katja Kobow, Krista L. Gilby, Michele Simonato, Shilpa D. Kadam, Thierry Grisar   +8 more
core   +2 more sources

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation

International Journal of Medical Sciences
There are more than 70 million people worldwide living with epilepsy, with most experiencing the onset of epilepsy in childhood. Despite the availability of more than 20 anti-seizure medications, approximately 30% of epilepsy patients continue to experience unsatisfactory treatment outcomes.
Hu, Chunhui, Liu, Deying, Wang, Hua
openaire   +2 more sources

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