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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Nabbout, R., Dulac, O. Genetics of early-onset epilepsy with encephalopathy. Nat Rev Neurol 8, 129–130 (2012). https://doi.org/10.1038/nrneurol.2012.12
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DOI: https://doi.org/10.1038/nrneurol.2012.12
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