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EPILEPSY Genetics of early-onset epilepsy with encephalopathy

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NATURE REVIEWS NEUROLOGY
卷 8, 期 3, 页码 129-130

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NATURE PUBLISHING GROUP
DOI: 10.1038/nrneurol.2012.12

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Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

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