Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants

AbstractDravet syndrome (DS) is a rare and severe epileptic syndrome of childhood with prevalence between 1/22,000 and 1/49,900 of live births. Approximately 80% of patients with this syndrome presentSCN1A pathogenic variants, which encodes an alpha subunit of a neural voltage-dependent sodium channel. There is a correlation betweenPCDH19 pathogenic variants, encodes the protocadherin 19, and a similar disease to DS known as DS-like phenotype. The present review aims to clarify the differences between DS and DS-like phenotype according to theSCN1A andPCDH19 variants. A systematic review was conducted in PubMed and Virtual Health Library (VHL) databases, using “Dravet Syndrome” and “Severe Myoclonic Epilepsy in Infancy (SMEI)” search words, selecting cohort of studies published in journal with impact factor of two or greater. The systematic review was according to the Preferred Reporting Items for Systematic Review and Meta-Analysis recommendation s. Nineteen studies were included in the present review, and a significant proportion of patients with DS-carryingSCN1A was greater than patients with DS-like phenotype-harboringPCDH19 variants (76.6% versus 23.4%). When clinical and genetic data were correlated, autism was predominantly observed in patients with DS-like-carryingPCDH19 variants compared toSCN1A variant carriers (62.5% versus 37.5%, respectively,P-value  = 0.044,P-value corrected  = 0.198). In addition, it was noticed a significant predisposition to hy...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research