Results 91 to 100 of about 7,962 (207)

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. [PDF]

Hum Genome Var, 2023
Watanabe K, Kubota K, Nakashima M, Saitsu H.   +3 more
europepmc   +1 more source

Pediatric Investigation Plans for seizure and epilepsy treatments: An analysis since the implementation of the European Pediatric Regulation in 2006

Epilepsia, EarlyView.
Abstract Objective A Pediatric Investigation Plan (PIP) implemented under the European Pediatric Regulation (EC No. 1901/2006) aims to ensure early and systematic evaluation of medicines for children. We analyze PIPs for antiseizure medications (ASMs) submitted to the European Medicines Agency (EMA) since 2006, characterizing their content, focusing on
Valeria Agostini, Stéphane Auvin
wiley   +1 more source

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms. [PDF]

J Paediatr Child Health, 2022
Dzau W, Cheng S, Snell P, Fahey M, Scheffer IE, Harvey AS, Howell KB.   +6 more
europepmc   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source

EEG biomarkers for the diagnosis and treatment of infantile spasms. [PDF]

Front Neurol, 2022
Romero Milà B, Remakanthakurup Sindhu K, Mytinger JR, Shrey DW, Lopour BA.   +4 more
europepmc   +1 more source

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

Epilepsia, EarlyView.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri, Oluyomi Adesoji, Roland Krause, Patrick May, Holger Lerche, Albert Becker, Daniela Grimm, International League Against Epilepsy Consortium on Complex Epilepsies, Michael Nothnagel, Herbert Schulz   +9 more
wiley   +1 more source

Clinical outcomes following stereotactic MRI‐guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy

Epilepsia, EarlyView.
Abstract Objective In children with tuberous sclerosis complex (TSC) and drug‐resistant epilepsy (DRE), magnetic resonance imaging–guided stereotactic laser ablation (SLA) therapy offers less‐invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long‐term outcomes in patients with TSC‐related DRE who have ...
Chelsey Ortman, Rohini Coorg, Irfan Ali, Dave Clarke, Gloria Diaz‐Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M. Ravindra, James J. Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T. Freiling, Karen Evankovich, Yingchao Yuan, Kalman A. Katlowitz, Daniel Curry, Howard L. Weiner, Anne Anderson   +23 more
wiley   +1 more source

Response to treatment and outcomes of infantile spasms in Down syndrome. [PDF]

Dev Med Child Neurol, 2022
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM, Irish Paediatric Neurology Group.   +10 more
europepmc   +1 more source

Methodologies for developing and applying consensus‐based recommendations in epilepsy care: A narrative review

Epilepsia, EarlyView.
Abstract Consensus‐based recommendations (CBRs) are essential for health care decision‐making when evidence is limited or conflicting. They can be developed using established methodologies such as the Delphi technique, the nominal group technique (NGT), and the RAND Corporation/University of California Los Angeles (UCLA) Appropriateness Method (RAM ...
Rowan Haffner, Brian Mathew, Francesco Brigo, Anila Qasim, Victoria San Antonio‐Arce, Houda Ben Ayed, Edoardo Ferlazzo, Churl‐Su Kwon, Kheng Seang Lim, James W. Mitchell, Muhammad A. Salisu, Kette Valente, Kollencheri Puthenveettil Vinayan, Colin B. Josephson, Nathalie Jette   +14 more
wiley   +1 more source

More Hormones, Less Spasms: IGF-1 as a Potential Therapy for Infantile Spasms. [PDF]

Epilepsy Curr, 2023
Dang LT.
europepmc   +1 more source