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Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy
Author(s) -
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.,
Alkuraya F.S.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12999
Subject(s) - genetics , epilepsy , phenotype , exome sequencing , biology , dravet syndrome , mutation , exome , encephalopathy , inheritance (genetic algorithm) , x linked recessive inheritance , gene , medicine , x chromosome , neuroscience
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.