Results 61 to 70 of about 10,093 (210)

Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report

Journal of Medical Case Reports, 2018
Background Posterior reversible encephalopathy syndrome is a neurotoxic condition that occurs as a result of the failure of posterior circulatory autoregulation in response to acute changes in blood pressure.
Ehab Hanafy, Duaa Alshareef, Suhaila Osman, Abdullah Al Jabri, Faisal Nazim, Gihan Mahmoud   +5 more
doaj   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Generalised reversible encephalopathy syndrome: a variant of posterior reversible encephalopathy syndrome (PRES) [PDF]

BMJ Case Reports, 2015
Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome characterised by headache, visual disturbance, seizures and altered consciousness. Radiological findings show hyperintense T2-lesions on MRI, predominantly located in the subcortical white matter of the posterior occipital and parietal lobes. We report the case of a
Julia, Kunzmann, Hubert, Wolf, Stefan, Oberndorfer   +2 more
openaire   +2 more sources

Adeno‐associated virus‐mediated restoration of NaV1.1 in targeted brain regions ameliorates epilepsy in symptomatic Dravet syndrome mice

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi, Simone Brusco, Serena Gea Giannelli, Vania Broccoli, Gaia Colasante   +4 more
wiley   +1 more source

Seizure improvement following intravenous immunoglobulin in drug‐resistant mesial temporal lobe epilepsy associated with systemic lupus erythematosus

Epileptic Disorders, EarlyView.
Kristijonas Puteikis, Basma Marzouk, Fabrice Bartolomei, Stanislas Lagarde   +3 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Clinical, etiological and imaging profile of posterior reversible encephalopathy syndrome: A prospective and follow-up study

Annals of Indian Academy of Neurology, 2020
Background: Although first described more than two decades ago, posterior reversible encephalopathy syndrome (PRES) continues to be enigmatic. We prospectively followed consecutive patients of PRES both clinically and radiologically for a better ...
Saurabh Bansal, Ramandeep Bansal, Manoj Kumar Goyal, Aastha Takkar, Ramandeep Singh, Paramjeet Singh, Vivek Lal   +6 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

Posterior Reversible Encephalopathy Syndrome in ALL

Pediatric Neurology Briefs, 2015
Investigators from Soochow University, Suzhou, China, studied the possible pathogenetic mechanisms and treatment of posterior reversible encephalopathy syndrome (PRES) observed in 11 cases of pediatric acute lymphoblastic leukemia (ALL) after induction chemotherapy.
openaire   +5 more sources