Results 71 to 80 of about 2,304,558 (334)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye +11 more
wiley +1 more source
Frontiers in Molecular Neuroscience, 2022 Childhood absence epilepsy (CAE) is the most common pediatric epilepsy affecting 10–18% of all children with epilepsy. It is genetic in origin and the result of dysfunction within the corticothalamocortical (CTC) circuitry.
Beulah Leitch
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 +11 more
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Pathophysiological role of extrasynaptic GABAA receptors in typical absence epilepsy [PDF]
, 2011 GABA is the principal inhibitory neurotransmitter in the mammalian CNS. It acts via two classes of receptors, the GABAA, a ligand gated ion channel (ionotropic receptor) and the metabotropic G-protein coupled GABAB receptor.
Errington, Adam C. +2 more
core
The involvement of limbic structures in typical and atypical absence epilepsy
, 2013 Typical and atypical seizures of absence epilepsy are thought to be generated by a rhythmogenic interplay between the cortex and the thalamus. However, the question remains as to which other subcortical and extrathalamic structures are involved in the ...
ONAT, FİLİZ
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Periventricular Heterotopia and Absence Epilepsy
Pediatric Neurology Briefs, 1999 A 7-year-old child with absence seizures and a 3-Hz generalized and occasional focal, spike-and-wave EEG pattern, responsive to treatment with valproic acid, had an MRI with periventricular nodular heterotopias, primarily right sided.
J Gordon Millichap
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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 +3 more
wiley +1 more source
Electroclinical Features of Absence Epilepsy
Pediatric Neurology Briefs, 2006 Clinical and EEG features of absence seizures in 47 children with newly diagnosed, untreated childhood absence epilepsy (CAE) were analyzed using video-EEG recordings, in a study at University of Otago, Wellington, New Zealand; British Columbia Children ...
J Gordon Millichap
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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
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Nonlinear EEG biomarker profiles for autism and absence epilepsy
, 2017 BackgroundAlthough autism and epilepsy are considered to be different disorders, epileptiform EEG activity is common in people with autism even when overt seizures are not present. The relatively high comorbidity between autism and all epilepsy syndromes
W. Bosl, T. Loddenkemper, C. Nelson
semanticscholar +1 more source