Article
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.
Clinical genetics - 1 Sept 2017
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
Abstract excerpt
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...
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