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Volume 9 Journal of Neurology and Neuroscience
ISSN: 2171-6625
Page 39
JOINT EVENT
July 23-24, 2018 Birmingham, UK
&
24th International Conference on Neuroscience and Neurochemistry
26th Edition of International Conference on Clinical Psychology and Neuroscience
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy
Wafaa Ramadan1, Nisha Patel1, Shamsa Anazi1, Amal Y Kentab2, Fahad A Bashiri2, Muddathir H Hamad2, Lamya Jad3, Mustafa A Salih2, Hessa Alsaif1,
Mais Hashem1, Eissa Faqeih3, Hanan E Shamseddin1 and Fowzan S Alkuraya1,4
1King Faisal Specialist Hospital and Research Center, Saudi Arabia
2King Khalid University Hospital, King Saud University, Saudi Arabia
3King Fahad Medical City, Saudi Arabia
4Alfaisal University, Saudi Arabia
Introduction: Dominant SCN1B 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 negative clinical exome in one of these families highlight the need to consider recessive mutations
in the interpretation of variants in typically dominant genes.
Materials&Methods:We conductedautozygositymappingandamulti-genepanel infive childrenwithepileptic encephalopathy
from three unrelated consanguineous families with normal parents.
Mutation Analysis: In family one and three the same splicing variant was identified (NM_001037.4:c.449-2A>G). In family
two a missense homozygous SCN1B variant (NM_001037.4:c.355T>G:p.Y119D) was identified with high pathogenicity scores
using in silico prediction tools (PolyPhen (0.997), SIFT (0) and CADD (27)). These variants were completely absent in >7,000
Saudis screened for these genes using exome sequencing and gene panel testing. They were also absent in ExAC.
Conclusion: Although dominant mutations are the typical class of mutations in SCN1B in the context of epilepsy, recessive
mutations in this gene have also been reported, albeit very rarely (two patients to date). The negative clinical exome in one of
these families highlight the need to consider recessive mutations in the interpretation of variants in typically dominant genes.
Biography
Wafaa Ramadan has completed her MBBS degree this June at the age of 24 years from AlFaisal University, Riyadh, KSA. She has a diploma in clinical research
activities and a certificate for one year training in developmental genetic department. Dr. Wafaa graduated with first honor degree and has the award of being best
intern of the year. She has three papers published, she is the first author in the one she's presenting. Her field of interest is neurology and neuroscience and her
work is dedicated towards it.
Wafaa Ramadan et al., J Neurol Neurosci 2018, Volume 9
DOI: 10.21767/2171-6625-C2-011