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...