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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Anna Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen-Kaesbach, Alexander Hoischen, Katja Lohmann*

*Corresponding author for this work
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Neuroscience

Biochemistry, Genetics and Molecular Biology