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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Korff, Christian 2015
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Epilepsy: old syndromes, new genes Weckhuysen, Sarah; Korff, Christian 2014
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MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity DeLozier-Blanchet, C; Haenggeli, Charles-Antoine; Bottani, Armand 1999