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Review Oct 2026

Genotype-phenotype correlations in KCNA2 related neurodevelopmental disorder: expanding the clinical and molecular spectrum.

BACKGROUND Pathogenic variants in KCNA2 are associated with developmental and epileptic encephalopathy 32 (DEE32), but genotype-phenotype correlations remain unclear. METHODS Whole-exome sequencing was performed in patients with developmental delay and/or epilepsy. Previously reported KCNA2 variants were reviewed to...

Ji-Yuan Zhang, Song Su, Wan-Dong Hu et al. · 0 citations

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