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- Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features Journal Articles
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine Journal Articles
- Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases Journal Articles
- Peri-oral myoclonia with absences with multiple facial and upper body myoclonia: Overlap epilepsy syndrome Journal Articles
- The Fault in Their Stars—Accumulating Astrocytic Inclusions Associated With Clusters of Epileptic Spasms in Children With Global Developmental Delay Journal Articles
- The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep Journal Articles