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Epilepsia|August 27, 2010
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora diseaseGaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.
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