Network dynamics in the healthy and epileptic developing brain [PDF]
, 2017 Electroencephalography (EEG) allows recording of cortical activity at high temporal resolution. EEG recordings can be summarised along different dimensions using network-level quantitative measures, e.g.
Baier, G +3 more
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Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series [PDF]
, 2022 浜松医科大学博士（医学）doctoral医学系研究科Objectives: Long-term adrenocorticotropic therapy (LT-ACTH), which consisted of 2-4 weeks of daily injections of adrenocorticotropic hormone (ACTH) and subsequent months of weekly injections, was tried for relapsed West syndrome
12713, 馬場, 信平
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A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]
, 2016 Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen +72 more
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Relationship of Clinical Profile with Neuroimaging and Electroencephalogram Changes in First Unprovoked Seizure in Children: A Cross-sectional Study [PDF]
Journal of Clinical and Diagnostic ResearchIntroduction: Unprovoked seizures are common events in children, occurring as single episodes or recurring, as seen in epilepsy. The First Unprovoked Seizure (FUS) poses diagnostic challenges and raises concerns about aetiology, the initiation of anti ...
Anjana Vadakkutta Madanan +2 more
doaj +1 more source
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]
, 2016 The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G +7 more
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ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. [PDF]
, 2002 The efficacy of ACTH, particularly in high doses, for rapid and complete elimination of infantile spasms (IS) has been demonstrated in prospective controlled studies. However, the mechanisms for this efficacy remain unknown.
Avishai-Eliner, S +2 more
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Novel characterization method of impedance cardiography signals using time-frequency distributions [PDF]
, 2018 The purpose of this document is to describe a methodology to select the most adequate time-frequency distribution (TFD) kernel for the characterization of impedance cardiography signals (ICG). The predominant ICG beat was extracted from a patient and was
Escrivá Muñoz, Jesús +4 more
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Phenotypic and molecular insights into CASK-related disorders in males [PDF]
, 2015 Background: Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females.
Bautsch, Jan +19 more
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Mystery Case: An infant with developmental delay, epileptic spasms, and acrocyanosis
Neurology, 2020 A 10-month-old girl presented with global developmental delay, epileptic spasms, and easy bruisability. She was fourth-born of third-degree consanguineous parents with 3 healthy siblings. The perinatal period was uneventful.
Priyanka Madaan +4 more
semanticscholar +1 more source