Structural genomic variation in childhood epilepsies with complex phenotypes
نویسندگان
چکیده
منابع مشابه
Childhood epilepsies
2. Saleh is a 2-year-old male who presented with a self-aborted generalized tonic clonic seizure, which lasted for few minutes with high-grade fever due to pharyngitis. His father who is now a mathematics teacher, used to have seizures with fever between ages 2-4 years. Saleh’s mother is asking whether her child is going to be epileptic in future or not. Best response is that you would tell her...
متن کاملThe Epilepsies in Childhood.
A convulsion or major fit is a sudden outburst of motor spasm, or involuntary movement, of the whole or of part of the body, usually associated with loss of consciousness. In a minor fit there is a loss or dimming of consciousness without muscular twitching. The mechanism immediately responsible for the fit is generally accepted to be an excessive discharge of cortical neurones, in a state of p...
متن کاملCatastrophic Epilepsies of Childhood.
The tragedy of epilepsy emerges from the combination of its high prevalence, impact upon sufferers and their families, and unpredictability. Childhood epilepsies are frequently severe, presenting in infancy with pharmaco-resistant seizures; are often accompanied by debilitating neuropsychiatric and systemic comorbidities; and carry a grave risk of mortality. Here, we review the most current bas...
متن کاملThe minor epilepsies of childhood.
Introduction There is no doubt that children suffering from epilepsy tend to manifest its minor forms with greater frequency than adults. However, before considering this problem further, it is essential to define the terms to be used, as a certain amount of confusion has arisen as the result of clinicians and --electroencephalographists sometimes using the same terms to refer to attacks of a d...
متن کاملRuler Arrays Reveal Haploid Genomic Structural Variation
Despite the known relevance of genomic structural variants to pathogen behavior, cancer, development, and evolution, certain repeat based structural variants may evade detection by existing high-throughput techniques. Here, we present ruler arrays, a technique to detect genomic structural variants including insertions and deletions (indels), duplications, and translocations. A ruler array explo...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.262