Results 41 to 50 of about 63,715 (255)

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Clinical features of Infantile Epileptic Spasms Syndrome: a systematic review. [PDF]

Orphanet J Rare Dis
Introduction Infantile Epileptic Spasms Syndrome (IESS) is a severe epilepsy in children between one month and two years of age. Urgent referral of possible IESS cases from pediatricians and family physicians who care for children to neurologists for ...
Meng X, Takacs DS, Kelagere Y, Zhang Z, Seshadri S, Cha J, Li M, Chen LS.   +7 more
europepmc   +2 more sources

Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu, Sophia F. Damman, Samhitha M. Rai, Hesham Abboud   +3 more
wiley   +1 more source

In Vivo Multimodal Magnetic Resonance Imaging Changes After N-Methyl-d-Aspartate-Triggered Spasms in Infant Rats

Frontiers in Neurology, 2018
ObjectiveDespite the serious neurodevelopmental sequelae of epileptic encephalopathy during infancy, the pathomechanisms involved remain unclear. To find potential biomarkers that can reflect the pathogenesis of epileptic encephalopathy, we explored the ...
Minyoung Lee, Minyoung Lee, Mi-Sun Yum, Mi-Sun Yum, Dong-Cheol Woo, Woo-Hyun Shim, Woo-Hyun Shim, Tae-Sung Ko, Libor Velíšek, Libor Velíšek, Libor Velíšek   +10 more
doaj   +1 more source

Origin and Propagation of Epileptic Spasms Delineated on Electrocorticography [PDF]

Epilepsia, 2005
Summary:  Purpose: Ictal electrographic changes were analyzed on intracranial electrocorticography (ECoG) in children with medically refractory epileptic spasms to assess the dynamic changes of ictal discharges associated with spasms and their relation to interictal epileptiform activity and neuroimaging findings.
Eishi, Asano, Csaba, Juhász, Aashit, Shah, Otto, Muzik, Diane C, Chugani, Jagdish, Shah, Sandeep, Sood, Harry T, Chugani   +7 more
openaire   +2 more sources

IGF-1 impacts neocortical interneuron connectivity in epileptic spasm generation and resolution

Neurotherapeutics
Little is known about the mechanisms that generate epileptic spasms following perinatal brain injury. Recent studies have implicated reduced levels of Insulin-like Growth Factor 1 (IGF-1) in these patients’ brains.
Carlos J. Ballester-Rosado, John T. Le, Trang T. Lam, Anne E. Anderson, James D. Frost, Jr., John W. Swann   +5 more
doaj   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Epileptic spasms with terror during sleep in CDKL5 encephalopathy [PDF]

, 2022
International audienceStudy objectives: To describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.Methods: We retrospectively studied 35 patients (25 females, 10 males) with ...
Castellanos, A., Sharkov, Artem, Bienvenu, T., Volkov, Iosif, Pivovarova, A., Sharkov, A., Melikishvili, G., Tomenko, Tatiana, Roisman, G., Dulac, Olivier, Gataullina, Svetlana, Pivovarova, Alexandra, Gataullina, S., Roisman, Gabriel, Gachechiladze, Tamar, Dulac, O., Volkov, I., Castellanos, Abril, Melikishvili, Gia, Tomenko, T., Andrade, Maria-Theresa, Bienvenu, Thierry, Gachechiladze, T., Andrade, M. -T.   +23 more
core   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long-term seizure freedom in drug-resistant epileptic spasms. [PDF]

Epilepsia Open
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Li H, Wang Y, Guo Q, Chen J, Li K, Li D, Tan Q, Guo J.   +7 more
europepmc   +2 more sources

Limited efficacy of zonisamide in the treatment of refractory infantile spasms

Epilepsia Open, 2020
A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain, Mario Navarro, Jaeden Heesch, Matthew Ji, Brenda Asilnejad, Haley Peters, Rajsekar R. Rajaraman, Raman Sankar   +7 more
doaj   +1 more source