Article
Magnetic resonance imaging findings in infantile spasms: etiologic and pathophysiologic aspects.
Department of Neurology, Division of Child Neurology, Istanbul University, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Journal of Child Neurology (impact factor:
1.75).
05/2003;
18(4):241-6.
Source: PubMed
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Citations (0)
- Cited In (2)
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Article: Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
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ABSTRACT: Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse.The American Journal of Human Genetics 08/2008; 83(1):106-11. · 10.60 Impact Factor -
Article: Elucidating the Complex Interactions between Stress and Epileptogenic Pathways.
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ABSTRACT: Clinical and experimental data suggest that stress contributes to the pathology of epilepsy. We review mechanisms by which stress, primarily via stress hormones, may exacerbate epilepsy, focusing on the intersection between stress-induced pathways and the progression of pathological events that occur before, during, and after the onset of epileptogenesis. In addition to this temporal nuance, we discuss other complexities in stress-epilepsy interactions, including the role of blood-brain barrier dysfunction, neuron-glia interactions, and inflammatory/cytokine pathways that may be protective or damaging depending on context. We advocate the use of global analytical tools, such as microarray, in support of a shift away from a narrow focus on seizures and towards profiling the complex, early process of epileptogenesis, in which multiple pathways may interact to dictate the ultimate onset of chronic, recurring seizures.Cardiovascular Psychiatry and Neurology 01/2011; 2011:461263.
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Keywords
103 cranial MRIs
72 months
cerebral ventricles
common involvement
corpus callosum
cranial magnetic resonance imaging
cranial MRI
diencephalic
enlargement
etiologic evaluation
etiology
infantile spasms
MRI
pathophysiologic aspects
primary cause
specific etiology
subarachnoid space
symptomatic infantile spasms
Thin corpus callosum