Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

Clin. Genet.2017 Sep;92(3):327-331. doi:10.1111/cge.12999. Epub 2017 Apr 19

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mice. The 'negative' clinical exome in one of these families highlights the need to consider recessive mutations in the interpretation of variants in typically dominant genes.

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Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

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