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

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

W Ramadan  1 , N Patel  1 , S Anazi  1 , A Y Kentab  2 , F A Bashiri  2 , M H Hamad  2 , L Jad  3 , M A Salih  2 , H Alsaif  1 , M Hashem  1 , E Faqeih  3 , H E Shamseddin  1 , F S Alkuraya  1   4
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Case Reports

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

W Ramadan et al. Clin Genet. 2017 Sep.

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: SCN1B; GEFS+; clinical exome; epilepsy; haploinsufficiency; homozygous mutation; voltage-gated sodium channel.

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