1. Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.
- Author
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Ramadan, W., Patel, N., Anazi, S., Kentab, A.Y., Bashiri, F.A., Hamad, M.H., Jad, L., Salih, M.A., Alsaif, H., Hashem, M., Faqeih, E., Shamseddin, H.E., and Alkuraya, F.S.
- Subjects
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GENETIC mutation , *PEOPLE with epilepsy , *HEPATIC encephalopathy , *DOMINANCE (Genetics) , *EXOMES , *PATIENTS - Abstract
Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans. Only 2 epilepsy patients to date have been reported to have recessive mutations in SCN1B as the likely cause of their phenotype. Here, we confirm the recessive inheritance of 2 novel SCN1B mutations in 5 children from 3 families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b−/− 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. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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