Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission
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The HECW2 gene, essential for neurodevelopment, plays a critical role in maintaining cellular homeostasis and regulating key pathways in the nervous system. Deleterious variants in the HECW2 gene have been associated with developmental delay, intellectual disa... ...