SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families
Work
Year: 2022
Type: article
Abstract: 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 pre... more
Source: Genes
Authors Diana M. Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marín-Gómez, María del Pilar Pereira-Gómez +9 more
Institutions Columbia University Irving Medical Center, Universidad de Antioquia, University of Washington
Cites: 37
Cited by: 2
Related to: 10
FWCI: 0.418
Citation percentile (by year/subfield): 61.67
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Sustainable Development Goal Good health and well-being
Open Access status: gold
APC paid (est): $2,598
Grant IDS U24 HG008956, UM1 HG006493