Results 31 to 40 of about 276,627 (258)

Autoimmune encephalitis and epilepsy: evolving definition and clinical spectrum [PDF]

Clinical and Experimental Pediatrics, 2020
Advances in autoimmune encephalitis studies in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder.
Joo Hee Seo, Yun-Jin Lee, Ki Hyeong Lee, Elakkat Gireesh, Holly Skinner, Michael Westerveld   +5 more
doaj   +1 more source

Establishing an assay to evaluate d‐amino acid oxidase enzyme kinetics and inhibition using WST‐8 redox dye

FEBS Open Bio, EarlyView.
This study investigated a novel WST‐8‐based assay for evaluating d‐Amino acid oxidase (DAO) inhibitors. We confirmed its effectiveness using known inhibitors and found that uremic toxins possess relatively weak inhibitory activity compared to existing drugs.
Kahoko Miyake, Yuki Enoki, Yuka Nakazawa, Kazuaki Taguchi, Kazuaki Matsumoto   +4 more
wiley   +1 more source

The economic burden of KCNT1-related disorders in the United States: insights from caregiver-reported and EMR-derived data

BMC Health Services Research
Background KCNT1-related disorders are rare, severe neurogenetic disorders associated with early-onset, treatment-resistant seizures and significant developmental comorbidities.
Amanda Abuhl, Brad Bryan, Megan Wright, Allison Rosenberg, Justin West, Sarah Drislane   +5 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Epilepsy Secondary to a Giant AVM: A Case Report

Case Reports in Vascular Medicine
Intracranial arteriovenous malformations (AVMs) are vascular anomalies that can present with intracranial hemorrhage, seizures, or neurological deficits.
Emilio García Gómez, Daniela Carolina Pimentel Saona, Juan Romero Valencia, Lenin Sandoval Luna, Cristobal Jeronimo Ortega Arenas, Daniel San-Juan   +5 more
doaj   +1 more source

Impairment of emotional expression detection after unilateral medial temporal structure resection

Scientific Reports, 2021
Detecting emotional facial expressions is an initial and indispensable component of face-to-face communication. Neuropsychological studies on the neural substrates of this process have shown that bilateral amygdala lesions impaired the detection of ...
Wataru Sato, Naotaka Usui, Reiko Sawada, Akihiko Kondo, Motomi Toichi, Yushi Inoue   +5 more
doaj   +1 more source

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

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Socioeconomic Outcome and Quality of Life in Adults after Status Epilepticus: A Multicenter, Longitudinal, Matched Case–Control Analysis from Germany

Frontiers in Neurology, 2017
BackgroundThere is a lack of data concerning socioeconomic outcome and quality of life (QoL) in patients after status epilepticus (SE) in Germany.Patients and methodsAdult patients treated between 2011 and 2015 due to SE at the university hospitals in ...
Lena-Marie Kortland, Susanne Knake, Felix von Podewils, Felix Rosenow, Felix Rosenow, Adam Strzelczyk, Adam Strzelczyk   +6 more
doaj   +1 more source

Removal of a temporal lobe cavernous angioma to control epileptic seizures in a patient with tuberous sclerosis complex

Heliyon, 2020
Purpose: A patient with tuberous sclerosis complex (TSC) and a left temporal cavernous angioma (CA) presented with treatment-resistant epilepsy. We evaluated the patient to determine the best treatment option.
Kazuki Sakakura, Ayataka Fujimoto, Naoki Ichikawa, Shimpei Baba, Hideo Enoki, Tohru Okanishi   +5 more
doaj   +1 more source