Results 181 to 190 of about 62,047 (246)

Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report. [PDF]

Front Psychiatry
Gaberova K, Pacheva IH, Yordanova R, Todorov T, Todorova A, Grozdanova L, Panova M, Georgieva M, Ivanov IS.   +8 more
europepmc   +1 more source

Prolonged fenfluramine use in open‐label studies of Dravet or Lennox–Gastaut syndromes: Long‐term safety, tolerability, patient global functioning, and considerations for interpreting effectiveness

Epilepsia, EarlyView.
This graphical abstract provides an overview of the content from this open‐label extension study of fenfluramine use in patients with Dravet syndrome or Lennox‐Gastaut syndrome. Abstract Objective Long‐term safety and global functioning are reported in patients with Dravet syndrome (DS) or Lennox–Gastaut syndrome (LGS) treated with fenfluramine in an ...
Antonio Gil‐Nagel, Kelly G. Knupp, Boudewijn Gunning, Domenica Immacolata Battaglia, Elizabeth A. Thiele, Ingrid E. Scheffer, An‐Sofie Schoonjans, Rima Nabbout, Nathalie Villeneuve, Kerstin Alexandra Klotz, Nicola Specchio, Rocio Sanchez‐Carpintero, Marta Zolnowska, Anne‐Liv Schulz, Lily Perrin, Najla Dickson, Mélanie Langlois, Amélie Lothe, Joseph Sullivan   +18 more
wiley   +1 more source

Hidden Cardiac Channelopathies in Children Presenting with Syncope and Seizure-like Events. [PDF]

Children (Basel)
Aytekin Güvenir F, Özgür S.
europepmc   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source

Genotype mutations and phenotypes of 30 cases with epilepsy related to fever sensitivity in children. [PDF]

Front Neurol
Wang Y, Zhang L, Ma J, Jing M, Hua Y, Liu Y, Fan X.   +6 more
europepmc   +1 more source

Epileptogenic lesions in the Australian epilepsy project: A harmonized 3‐T magnetic resonance imaging protocol and its diagnostic yield

Epilepsia, EarlyView.
Abstract Objective Detection of epilepsy‐causing structural brain lesions on magnetic resonance imaging (MRI) is critical for diagnosis, prognosis, and treatment planning in people with epilepsy. We aimed to establish an epilepsy‐directed multisite harmonized 3‐T MRI acquisition protocol for the Australian Epilepsy Project (AEP) and describe the ...
David N. Vaughan, David F. Abbott, Amanda Anderson, Greg Fitt, Suyi Ooi, Heath Pardoe, Donna Parker, Yuliya Perchyonok, Eric Pierre, Chris Kokkinos, Robert E. Smith, Michael Stewart, Bahman Tahayori, Chris Tailby, Graeme D. Jackson, the Australian Epilepsy Project Investigators, Zanfina Ademi, Patrick Kwan, Karen Oliver, Mangor Pedersen   +19 more
wiley   +1 more source

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland. [PDF]

J Inherit Metab Dis
Scharre S, Hess AL, Gleich F, Garbade SF, Feyh P, Karall D, Baghdasaryan A, Huemer M, Hennermann JB, Hahn A, Lindner M, Gramer G, Luecke T, Kleinelanghorst N, Haeberle J, Lotz-Havla AS, Hoffmann GF, Okun JG, Muetze U, Kölker S.   +19 more
europepmc   +1 more source

Do witnesses of functional/dissociative seizures recall them accurately? A UK experimental study of semiology recall at clinically relevant time points with a pilot intervention

Epilepsia, EarlyView.
Abstract Objective Different causes of transient loss of consciousness (TLOC) carry distinct risks and require different management. Early accurate diagnosis is essential to guide counseling, investigation, and referral. In routine practice, frontline clinicians and specialists often rely on eyewitness accounts, yet the reliability of witness testimony
Adam John Noble, Steven Lane, Amina Al‐Khaddar, Annabelle Blundy, Brenna Dubois, Chloe Pearce, Laszlo Sztriha, Graham Powell, Alistair Wardrope, Rajiv Mohanraj, Anthony Guy Marson, Markus Reuber   +11 more
wiley   +1 more source

Ketogenic Diet Versus Immunological Therapy in the Management of Refractory Epilepsy in Children. [PDF]

Cureus
Elasheer OM, Eldaly EH, Gad EF, Elgalaly NA, Raafat DM, ElGyar N.   +5 more
europepmc   +1 more source