Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
Imane AbdelmoumenSandra JimenezIgnacio ValenciaJoseph MelvinAgustin LegidoMayela M Diaz-DiazChristopher GriffithLauren J MassinghamMelissa YeltonJanice Rodríguez-HernándezRhonda E SchnurLaurence E WalshAna G CristanchoChristina A BergqvistKirsty McWalterIain MathiesonGillian M BelbinEimear E KennyXilma R Ortiz-GonzálezMichael C SchneiderPublished in: Journal of child neurology (2020)
We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the FRRS1L (p.Gly246del) Boricua variant exhibit a very homogenous phenotype of early developmental regression and epilepsy, starting with infantile spasms and evolving into Lennox-Gastaut syndrome with hyperkinetic movement disorder.
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