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Clin Genet. 2010 Jun;77(6):538-40. doi: 10.1111/j.1399-0004.2010.01396_3.x. Epub 2010 Mar 1.

De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy.

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Center for Molecular Medicine and Therapeutics, University of British Columbia,Vancouver, BC, Canada. sfranciosi@cmmt.ubc.ca
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