Results 31 to 40 of about 37,135 (264)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Antecedent Drug Exposure Aetiology and Management Protocols in Steven-Johnson Syndrome and Toxic Epidermal Necrolysis, A Hospital Based Prospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2016
Aim: The study sought to identify the magnitude and characteristic of severe cutaneous adverse reactions (SCAR’s) like Steven–Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN).
Samina Farhat, Muddasir Banday, Iffat Hassan   +2 more
doaj   +1 more source

Assessment of bone mineral density in epileptic patients with long-term antiepileptic therapy: pilot data

Обозрение психиатрии и медицинской психологии имени В.М. Бехтерева, 2023
Currently, there are numerous anticonvulsants with a favorable pharmacological profile and high safety are available. However, there is still a risk of drug-induced adverse events during long-term administration of antiepileptic therapy.
N. A. Sivakova, I. V. Abramova, V. P. Rybasova, O. D. Bolshunova, E. D. Kasyanov, G. V. Rukavishnikov, M. A. Khobeysh, M. Yu. Sorokin, L. V. Lukina, N. I. Ananyeva, R. F. Nasyrova, V. A. Mikhailov, G. E. Mazo   +12 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Transient lesion in the splenium of the corpus callosum and a sudden antiepileptic drugs withdrawal: A case with focal epilepsy in presurgical evaluation [PDF]

Vojnosanitetski Pregled, 2010
Introduction. A sudden withdrawal of antiepileptic drugs gives higher rate of epileptic seizures in the settings of video electroencephalography (vEEG), monitoring that is a subject to further registration and analysis.
Ristić Aleksandar, Lavrnić Slobodan, Zović Ljubica, Vojvodić Nikola, Janković Slavko, Škrijelj Fadilj, Ercegovac Marko, Sokić Dragoslav   +7 more
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Optimal Management of Status Epilepticus in Children in the Emergency Setting: A Review of Recent Advances

Open Access Emergency Medicine, 2022
Shrouk Messahel,1 Louise Bracken,2 Richard Appleton3 1NIHR NWC Speciality Research Lead for Trauma and Emergency Care, The Emergency Department, Alder Hey Children’s NHS Foundation Trust, Liverpool, L12 2AP, UK; 2Paediatric Medicines Research Unit, Alder
Messahel S, Bracken L, Appleton R
doaj  

Prevention of Status Epilepticus in Dravet Syndrome: Nationwide Survey in Japan

Pediatric Neurology Briefs, 2008
Child neurologists and epileptologists at various university centers in Japan were surveyed by questionnaire to identify the most effective strategies for management of and prophylaxis against status epilepticus (SE) in children with severe myoclonic ...
J Gordon Millichap
doaj   +1 more source