Archives of neurology
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Archives of neurology · Mar 2012
ReviewClinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. ⋯ Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features. The limited overlap between CNVs observed in the epilepsy group and those observed in the group with mental retardation only as well as the involvement of specific (ion channel) genes indicate a specific association between the identified CNVs and epilepsy. Screening for CNVs should be performed for diagnostic purposes preferentially in patients with epilepsy and mental retardation or neuropsychiatric features.
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Archives of neurology · Mar 2012
ReviewThe evolution of academic neurology: new information will bring new meaning.
We are on the cusp of what promises to be an era of unprecedented progress in neurology. Even with current fiscal constraints and serious concerns about how health care will be organized and financed, in the next 2 decades progress in neurology and neurological science will create important new insights into understanding the brain as we decipher its disorders and discover and apply effective treatments.