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Pharmacogenetics goes genomic
Most people in the developed world will sooner or later be given prescription drugs to treat common diseases or to reduce the risk of getting them. Almost everyone who takes medicines will, at someExpand
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Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
BackgroundAlternative gene transcript splicing permits a single gene to produce multiple proteins with varied functions. Bioinformatic investigations have identified numerous splice variants, butExpand
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Treatment of Epileptic Encephalopathies.
BACKGROUND Epileptic encephalopathies represent the most severe epilepsies, with onset in infancy and childhood and seizures continuing in adulthood in most cases. New genetic causes are beingExpand
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Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4)
(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron. TheExpand
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Delayed, rapid visual field loss in a patient after ten years of vigabatrin therapy
References 1 Jain A, Thampy R, Suharwardy J. Deciphering the code: does clinical coding accurately reflect peroperative cataract surgery complication rates? Eye 2007; 21: 670–671. 2 Colville RJ,Expand
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TBC1D24-Related Disorders
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Structural Image Analysis in Epilepsy
Magnetic resonance imaging (MRI) has revolutionized the management and understanding of epilepsy. Routine inspection of high-resolution MRI allows identification of lesions in many patients withExpand
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Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonicExpand
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Correction: Pharmacogenetics goes genomic
Nature Reviews Genetics 4, 937–947 (2003); doi: 10.1038/nrg1229 The glossary definitions for 'Map-based' and 'Sequence-based' were incorrect. The correct definitions should have read: MAP BASED AnExpand
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