Results 51 to 60 of about 223,158 (282)
Absence epilepsy in Malta [PDF]
, 1992 Absence epilepsy (AE), more commonly known as petit mal, is characterised by absences with bilaterally symmetrical and synchronous 24Hz spike-and-slow waves on the EEG.
Mifsud, Marisa
core
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]
, 2009 Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I. +9 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin +6 more
wiley +1 more source
Absence Epilepsy and Paroxysmal Dyskinesia
Pediatric Neurology Briefs, 2002 Six patients aged 6 to 27 years (mean, 14 years) with childhood absence epilepsy and paroxysmal dyskinesia (PD), identified at five European centers participating in a study group, are reported from Great Ormond Street Hospital, London, UK.
J Gordon Millichap
doaj +1 more source
Safety profile of oxcarbazepine: results from a prescription-event monitoring study [PDF]
, 2010 Purpose: To monitor safety of oxcarbazepine, prescribed in primary care in England, using prescription-event monitoring (PEM). Methods: Postmarketing surveillance using observational cohort technique of PEM.
Buggy, Y. +3 more
core +1 more source
Reduced neurosteroid potentiation of GABAA receptors in epilepsy and depolarized hippocampal neurons [PDF]
, 2020 OBJECTIVE: Neurosteroids regulate neuronal excitability by potentiating γ-aminobutyric acid type-A receptors (GABARs). In animal models of temporal lobe epilepsy, the neurosteroid sensitivity of GABARs is diminished and GABAR subunit composition is ...
Jansen, Laura A +3 more
core +2 more sources
Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira +10 more
wiley +1 more source
Frontiers in Neurology, 2022 According to the latest operational 2017 ILAE classification of epileptic seizures, the generalized epileptic seizure is still conceptualized as “originating at some point within and rapidly engaging, bilaterally distributed networks.” In contrast, the ...
Thandar Aung +2 more
doaj +1 more source
On the role of the corpus callosum in interhemispheric functional connectivity in humans [PDF]
, 2017 Resting state functional connectivity is defined in terms of temporal correlations between physiologic signals, most commonly studied using functional magnetic resonance imaging. Major features of functional connectivity correspond to structural (axonal)
Hacker, Carl D. +8 more
core +2 more sources
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source