Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery. [PDF]
Pentz R +10 more
europepmc +1 more source
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
Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of ad
openalex +1 more source
Clinical trajectories and medication response in TBC1D24‐related epilepsies
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 +9 more
wiley +1 more source
Electrophysiological network predicts clinical response to vigabatrin in epileptic spasms. [PDF]
Kim J, Kim MJ, Kim HJ, Yum MS, Ko TS.
europepmc +1 more source
Genetic risk factor identification for common epilepsies guided by integrative omics data analysis
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 +9 more
wiley +1 more source
Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2. [PDF]
Privitera F +3 more
europepmc +1 more source
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 +23 more
wiley +1 more source
Integrated analysis of proteomics and metabolomics in infantile epileptic spasms syndrome. [PDF]
Chen J +5 more
europepmc +1 more source
Encephalopathy with epileptic spasms resolved with corticoids in a 69 year‐old patient [PDF]
Bruno Maton +7 more
openalex +1 more source

