María del Pilar Pereira Gomez

Dr. María del Pilar Pereira Gomez

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Research Focus & Metrics

Academic Career Length

5Years (2022-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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25 April 2022 in Genes
Verified
Journal Article
Open access
PDF file
DCDiana M. Cornejo-Sanchez
Diana M. Cornejo-Sanchez
AAAnushree Acharya
Anushree Acharya
TBThashi Bharadwaj
Thashi Bharadwaj
LMLizeth Marin-Gomez
Lizeth Marin-Gomez
MGMaría del Pilar Pereira Gomez
María del Pilar Pereira Gomez
SLSuzanne M M Leal
Suzanne M M Leal
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American populations where studies on the genetic and phenotypic spectrum of GEFS+ are scarce. We evaluated members in two multi-generational Colombian Paisa families whose affected members present with classic GEFS+. Exome and Sanger sequencing were used to detect the causal variants in these families. In each of these families, we identified variants in SCN1A causing GEFS+ with incomplete penetrance. In Family 047, we identified a heterozygous variant (c.3530C > G; p.(Pro1177Arg)) that segregates with GEFS+ in 15 affected individuals. In Family 167, we identified a previously unreported variant (c.725A > G; p.(Gln242Arg)) that segregates with the disease in a family with four affected members. Both variants are located in a cytoplasmic loop region in SCN1A and based on our findings the variants are classified as pathogenic and likely pathogenic, respectively. Our results expand the genotypic and phenotypic spectrum associated with SCN1A variants and will aid in improving molecular diagnostics and counseling in Latin American and other populations.