Is the Genetics Primary Underlying Factor in Epilepsy and Autism Spectrum Disorders in Childhood?Author(s): Huseyin Avni Solgun* , Alper Ozk?l?c
Background: Among all epilepsies only a small proportion is defined to be mono-genetic. However, recent studies have helped to create effective technologies for genome analysis to identify de novo genetic mutations, particularly those associated with genes critical to neuronal functions and metabolism.
Material and Methods: In this study, three patients with epilepsy those have underlying genetical defects were presented. SCN1A, CHD2, BRCA2 and KIF1A genes of all exon regions in the genomic DNA sample isolated from patients' peripheral blood has been studied using the MiSeq system with a new generation of sequence analysis method.
Results: In our first case with epilepsy, the variant c.2415 + 1G> A detected heterozygously in the SCN1A gene causes the degradation of the highly conserved donor site in intron 13. In our second case with epilepsy; the variant c.1651T> G (p.Ser551Ala) detected heterozygously in the SCN1A gene causes the Serine amino acid at position 551 to be converted to Alanine and variant c.1719G> A (p.Thr573 =) detected heterozygously in the CHD2 gene causes a synonymous variant. In our third case with developmental delayed, autism spectrum disorder (ASD) and febrile convulsion; the variant c.4139_4140dup p. (Lys1381Leufs * 8), which is heterozygous in the BRCA2 gene, causes an early stop codon and variant c.3869T> C p (Ile1290Thr), which is detected heterozygously in the KIF1A gene, causes Threonine conversion of Isoleucine amino acid at position 1290.
Conclusion: Epileptic syndromes are highly seemed to be in relation with SCN1A, CHD2, K1F1A genes. Also the gene sequencing of these patients shows a correlation between some gene mutations with ASD. In order to determine whether this mutations, which has been confirmed by Sanger sequencing, is hereditary or de novo, it is recommended that family studies should be conducted with Sanger sequencing in future studies. Genetic counseling should be recommended to epileptic syndromes and ASD of childhood.