Results 51 to 60 of about 75,779 (301)

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

Antiepileptic drugs and suicidality

Drug, Healthcare and Patient Safety, 2010
Jeffery W Britton1, Jerry J Shih21Mayo Clinic, Rochester, MN, USA; 2Mayo Clinic, Jacksonville, FL, USAAbstract: The risk of suicide in patients with epilepsy is significantly higher than the general population. There are many hypotheses as to the reasons
Jeffery W Britton, Jerry J Shih
doaj  

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

Modulation of neural cell membrane conductance by the herbal anxiolytic and antiepileptic drug aswal [PDF]

, 2000
To evaluate the effects of aswal on ionic fluxes and neuronal excitation, we performed extracellular and whole cell patch clamp recordings on CA1 pyramidal neurons of guinea pigs and Long-Evans rats.
Grunze, Heinz, Langosch, J., Loewenich, C. von, Walden, Jörg   +3 more
core   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source

Epilepsy, Pregnancy, and Antiepileptic Drugs

Archives of Epilepsy, 2018
Pregnancy follow-up is different in epilepsy patients in comparison with healthy individuals. The rate of maternal and infant mortality, as well as pregnancy and delivery complications, is greater than in the normal population.
Betül TEKİN
doaj   +1 more source

New antiepileptic drugs, cost-efficacy analysis

Неврология, нейропсихиатрия, психосоматика, 2014
Objective: to optimize pharmacotherapy in patients with epilepsy and to evaluate the clinical and cost-effectiveness of its therapy with the new antiepileptic drugs (AED): levetiracetam, lamotrigine, topiramate, and oxcarbazepine.Patients and methods ...
P. N. Vlasov, N. V. Orekhova, T. I. Konovalova   +2 more
doaj   +1 more source

Should valproate be taken during pregnancy? [PDF]

, 2005
The Australian Registry of Antiepileptic Drug Use in Pregnancy includes 172 instances in which women took sodium valproate, with or without other antiepileptic drugs, during pregnancy.
Eadie, Mervyn J., Vajda, Frank J. E.
core   +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

Teratogenicity of Antiepileptic Drugs

Clinical Psychopharmacology and Neuroscience, 2017
Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies.This is a retrospective study of ...
Güveli, Betül Tekin, Rosti, Rasim Özgür, Güzeltaş, Alper, Tuna, Elif Bahar, Ataklı, Dilek, Sencer, Serra, Yekeler, Ensar, Kayserili, Hülya, Dirican, Ahmet, Bebek, Nerses, Baykan, Betül, Gökyiğit, Ayşen, Gürses, Candan   +12 more
openaire   +5 more sources