Abstract Objective To clinically validate the contribution of a custom‐built EEG wearable device (waEEG) compared to a full 10–20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs. Methods Patients (aged 16–91 years) with clinically suspected TLE who were
Daniel Filipe Borges+4 more
wiley +1 more source
Sudden bilateral loss of vision in a 19-year-old man [PDF]
Introduction: Posterior Reversible Leukoencephalopathy Syndrome (PRES) is caused by ischaemia commonly affecting the posterior cerebral vasculature. It presents with sudden decreased vision, headaches, nausea, vomiting, seizures, and altered mental ...
Cauchi, David+4 more
core
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth+9 more
core +1 more source
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi+12 more
wiley +1 more source
Brain abscess following rituximab infusion in a patient with pemphigus vulgaris. [PDF]
BackgroundImmunocompromised patients are at increased risk for developing meningitis or, rarely, brain abscess with opportunistic organisms like Listeria monocytogenes.Case reportA 52 year-old Saudi Arabian woman who was diagnosed with pemphigus vulgaris
Al-Harbi, Talal M+2 more
core +2 more sources
Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth+2 more
wiley +1 more source
Pharmacokinetic Model‐Informed Precision Dosing of Natalizumab in Multiple Sclerosis
ABSTRACT Intravenous natalizumab is an effective treatment for relapsing–remitting multiple sclerosis. However, the standard treatment interval of 4 weeks may be excessive for many patients. Personalized interval extension using therapeutic drug monitoring (TDM) can result in adequate drug exposure while reducing hospital visits and healthcare costs ...
Stefan P. H. van den Berg+9 more
wiley +1 more source
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff+26 more
core +3 more sources
Asymptomatic progressive multifocal leukoencephalopathy: a case report and review of the literature
Background We report the development of asymptomatic progressive multifocal leukoencephalopathy in a patient with multiple sclerosis on natalizumab therapy.
Yinan Zhang+2 more
doaj +1 more source
Magnetic resonance imaging in patients with migraine: the results of unsubstantiated referral
Introduction.Magnetic resonance imaging (MRI) in patients with migraines often reveals structural brain changes of an unclear aetiology. The effect of these changes on the patients management plan requires further investigation.
Kirill A. Pozhidaev+1 more
doaj +1 more source