Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E et al.
Brain : a Journal of Neurology, 2021
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz J et al.
Brain : a Journal of Neurology, 2020
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
AlMuhaizea M et al.
Acta Neuropathologica, 2020
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