Results 41 to 50 of about 1,226,813 (207)

A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome [PDF]

PURPOSE: The best possible outcomes in infantile epileptic spasms syndrome require electroclinical remission; however, determining electrographic remission is not straightforward.
Sirsi, Deepa, Takacs, Danielle S, Brock, Guy N, Ciliberto, Micheal A, Beatty, Christopher W, Fredwall, Megan M, Terrill, Tyler, McCabe, Corinne, Stafstrom, Carl E, Samanta, Debopam, Shrey, Daniel W, Mytinger, John R, Katyayan, Akshat, Tran, Linh, Vidaurre, Jorge, Bhalla, Sonam, Bhatia, Sonal, Aylward, Shawn C, Gonzalez-Giraldo, Ernesto, Hunter, Senyene E, Neville, Kerri, Kistler, Isaac, Sandoval Karamian, Amanda G, Patel, Shital H, Murray, Thomas, Albert, Dara V F, Clark, Daniel J, Spelbrink, Emily M, Choudhari, Purva R, Czech, Theresa M, Harini, Chellamani, Kulkarni, Neil, Steenari, Maija, Cohen, Jennifer Madan, Liu, Virginia B, Pavuluri, Spriha, Phillips, Donald J   +36 more
core   +1 more source

WEST SYNDROME REVISITED

Эпилепсия и пароксизмальные состояния, 2017
West syndrome is an epileptic syndrome, characterized by a triad of symptoms: infantile spasms, hypsarrhythmia on interictal EEG, and a regression or delay of psycho-motoric development.
T. G. Okhapkina, Z. K. Gorchanova, I. V. Shulyakova, E. S. Ilyina, E. S. Michurina, E. D. Belousova   +5 more
doaj   +1 more source

Effectiveness of ACTH in Patients with Infantile Spasms

Brain Sciences, 2022
(1) Background: West syndrome is a severe, refractory, epileptic syndrome that usually appears in infancy or early childhood. ACTH is one of the more effective drugs for treating this condition.
Justyna Paprocka, Jakub Malkiewicz, Veronica Palazzo-Michalska, Barbara Nowacka, Mikołaj Kuźniak, Ilona Kopyta   +5 more
doaj   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractGene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
openaire   +2 more sources

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

The significance of focal pattern in hypsarrhythmia

Brain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann, Birgit Stark, Gudrun Gröppel   +2 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

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

Short-term outcome of intravenous methylprednisolone pulse therapy versus oral prednisolone in patients with epileptic spasms

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background Infantile spasm (IS) is an age-specific epileptic disorder of early infancy that typically presents with epileptic spasms occurring in clusters.
Abdelsattar Abdullah Elsayeh, Mohammad Ali Saeed Hassan   +1 more
doaj   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source