SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families

Cornejo-Sanchez, D. M., Acharya, A., Bharadwaj, T., Marin-Gomez, L., Pereira-Gomez, P., Nouel-Saied, L. M., Nickerson, D. A., Bamshad, M. J., Mefford, H. C., Schrauwen, I., Carrizosa-Moog, J., Cornejo-Ochoa, W., Pineda-Trujillo, N., & Leal, S. M. (2022). SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. Genes, 13(5), 754. https://doi.org/10.3390/genes13050754
Authors:
Diana M Cornejo-Sanchez
Anushree Acharya
Thashi Bharadwaj
Lizeth Marin-Gomez
Pilar Pereira-Gomez
Liz M Nouel-Saied
University Of Washington Center For Mendelian Genomics
Deborah A Nickerson
Michael J Bamshad
Heather C Mefford
Isabelle Schrauwen
Jaime Carrizosa-Moog
William Cornejo-Ochoa
Nicolas Pineda-Trujillo
Suzanne M Leal
Affiliated Authors:
Diana M Cornejo-Sanchez
Anushree Acharya
Thashi Bharadwaj
Liz M Nouel-Saied
Isabelle Schrauwen
Suzanne M Leal
Author Keywords:
epilepsy
gefs plus
scn1a
incomplete penetrance
autosomal dominant
gefs+
Publication Type:
Article
Unique ID:
10.3390/genes13050754
PMID:
Journal:
Publication Date:
Data Source:
PubMed

Record Created: