Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

Imane Abdelmoumen,Sandra Jimenez,Ignacio Valencia,Joseph J. Melvin,Agustin Legido,Mayela M Diaz-Diaz,Christopher Griffith,Lauren J Massingham,Melissa Yelton,Janice Rodríguez-Hernández,Rhonda E. Schnur,Laurence E. Walsh,Ana G. Cristancho,Christina Bergqvist,Kirsty McWalter,Iain Mathieson,Gillian M. Belbin,Eimear E. Kenny,Xilma R. Ortiz-Gonzalez,Michael C. Schneider

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

2020

Objective:To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting wi...

Keywords:

Hyperkinetic Movements
Epileptic encephalopathy
Early Infantile Epileptic Encephalopathy
Pediatrics
Epilepsy
puerto rican
clinical phenotype
Founder mutation
Medicine

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