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

doi:10.1177/0883073820953001

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Article

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

Journal of child neurology - 1 Feb 2021

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

Abstract excerpt

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 with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor...

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PMID: 32928027
DOI: 10.1177/0883073820953001
PMCID: PMC8496110

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