Open access
Sep 2026
Identification of a novel homozygous FRRS1L variant in a Chinese girl with development delay and epilepsy: a case report
This study expands the genetic and phenotypic spectrums of DEE37, provides novel evidence supporting the correlation between FRRS1L variants and DEE37, and underscores the necessity for dynamic EEG monitoring and proactive management in high-risk patients with refractory seizures.
Liang Liu, Xi-Xiao Song, Bei Li et al.
· BMC Pediatrics · 0 citations