Results 121 to 130 of about 152,711 (286)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]
, 2010 Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir +24 more
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Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
Current Issues in Molecular BiologyWe profiled the gene expressions in the hypothalamic paraventricular nuclei of 12 male and 12 female pups from a standard rat model of infantile spasms to determine the sex dichotomy of the neurotransmission genomic fabrics.
Dumitru Andrei Iacobas +6 more
doaj +1 more source
Vigabatrin-Induced Peripheral Visual Field Defects in Patients With Refractory Partial Epilepsy [PDF]
, 2010 Purpose: Vigabatrin can cause retinopathy, resulting in bilateral visual field constriction. Previous analyses of results from a prospective, observational study assessing vigabatrin-induced visual field constriction (described below) employed a ...
Bittman, Richard M. +3 more
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Epilepsia Open, EarlyView.Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza +4 more
wiley +1 more source
Pathophysiology of Infantile Spasms
Pediatric Neurology Briefs, 1993 An age-specific endogenous-convulsant hypothesis implicating corticotropin-releasing hormone (CRH), an excitant neuropeptide suppressed by ACTH/steroids, is proposed for the pathophysiology of massive infantile spasms in a report from the University of ...
J Gordon Millichap
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New insights into epileptic spasm generation and treatment from the TTX animal model
Epilepsia Open, EarlyView.Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann +2 more
wiley +1 more source
Pediatric Neurology Briefs, 1993 The developmental, neurologic, and seizure outcome and prognostic factors of 57 cases of infantile spasms were evaluated in relation to etiology (cryptogenic 17 cases, symptomatic 40 cases) at the Hospital for Sick Children, Toronto, Canada.
J Gordon Millichap
doaj +1 more source
How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. [PDF]
, 2001 West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present ...
Baram, TZ, Brunson, KL, Eghbal-Ahmadi, M
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