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Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy |
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| Authors: | W. Ramadan N. Patel S. Anazi A.Y. Kentab F.A. Bashiri M.H. Hamad L. Jad M.A. Salih H. Alsaif M. Hashem E. Faqeih H.E. Shamseddin F.S. Alkuraya |
| Affiliation: | 1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;2. Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia;3. Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia;4. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia |
| 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. |
| Keywords: | clinical exome epilepsy GEFS+ haploinsufficiency homozygous mutation SCN1B voltage‐gated sodium channel |