Wafaa Ramadan, Nisha Patel, Shamsa Anazi, Amal Y Kentab, Fahad A Bashiri, Muddathir H Hamad, Lamya Jad, Mustafa A Salih, Hessa Alsaif, Mais Hashem, Eissa Faqeih, Hanan E Shamseddin and Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center, Saudi Arabia
King Saud University, Saudi Arabia
King Fahad Medical City, Saudi Arabia
Alfaisal University, Saudi Arabia
Posters & Accepted Abstracts: J Neurol Neurophysiol
Dominant SCN1B (Sodium channel subunit beta-1) mutations are known to cause several epilepsy syndromes in humans. Only two 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 two novel SCN1B mutations in five children from three families with developmental epileptic encephalopathy. The â??negativeâ? clinical exome in one of these families highlight the need to consider recessive mutations in the interpretation of variants in typically dominant genes.
Wafaa Ramadan has completed her MBBS this June from AlFaisal University, Riyadh, KSA.
