Results 31 to 40 of about 32,338 (260)
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Epilepsy & Behavior Reports, 2021 A 20-year-old woman with Dravet syndrome and multiple prior episodes of status epilepticus presented to our hospital in November 2018 in super-refractory status epilepticus.
David Millett, Suzanne Pach
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +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 +3 more
wiley +1 more source
Super-refractory status epilepticus and ischemic stroke: A clinical case report
Неврология, нейропсихиатрия, психосоматика, 2017 Generalized convulsive status epilepticus (GCSE) is the most dangerous type of status epilepticus. The paper describes a clinical case of a 33-year-old female patient admitted to an intensive care unit for diagnosed ischemic stroke in the posterior ...
A. S. Kotov +4 more
doaj +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera +20 more
wiley +1 more source
Interleucina-1ß, crisis convulsivas y muerte neuronal
Revista Peruana de Medicina Experimental y Salud Pública, 2013 La epilepsia es un trastorno neurológico que afecta aproximadamente al 1% de la población mundial. Estudios realizados en humanos y animales de experimentación sugieren que mediadores de inflamación, como las citocinas, participan en la fisiopatología de
Jesús S Medel-Matus +4 more
doaj
Neurobiology of Disease, 2014 Anti-inflammatory therapies are the current most plausible drug candidates for anti-epileptogenesis and neuroprotection following prolonged seizures.
B.A. Duffy +4 more
doaj +1 more source
The Case of a 40‐Year‐Old Man With New‐Onset Status Epilepticus in the Setting of HIV Infection
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 40‐year‐old man from Andhra Pradesh in India, while on regular antiretroviral treatment (ART) for long‐standing HIV infection presented with a 1‐day history of new‐onset status epilepticus. CT and MRI brain showed multifocal cerebral ring lesions, some of which demonstrated characteristic ‘hole‐with‐a‐dot’ sign.
Vadde Akhil, Ramachandiran Nandhagopal
wiley +1 more source