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Publication: Wang et al., 2025 - Modeling epilepsy by loss-of-function of the CUG-binding protein Elav-like family member 2 in zebrafish with multi-omics analysis
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Figure 1

CELF2 gene inheritance structure. (A) EEG revealed intermittent hypsarrhythmia, which met the diagnostic criteria for IESS. (B) MRI of the brain revealed dysplasia of the corpus callosum, accompanied by an enlarged prepontine cistern and bilateral temporal subarachnoid spaces. (C) Family pedigree is indicated as follows: filled symbols for affected individuals, unfilled for unaffected, squares for males, and circles for females. The arrow marks the proband. Genotypes are noted as follows: “−” for wild type, “+” for mutant. (D) DNA sequence chromatogram of the CELF2 mutations. (E) SWISS-Model visualization technique was used to compare natural and missense mutant amino acids. The residues of wild-type and mutant were light green. CELF2: CUGBP Elav-like family member 2; EEG: Electroencephalogram; IESS: Infantile epileptic spasms syndrome; MRI: Magnetic resonance imaging; SWISS-Model: Swiss Institute of Bioinformatics-Model.

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