medRxiv PreprintsInternational5 November 2026
Beyond Haploinsufficiency: Protein Domain and Variant Class Shape Language Outcomes in SYNGAP1-DEE
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Background SYNGAP1-related developmental and epileptic encephalopathy (SYNGAP1-DEE) is generally considered a haploinsufficiency disorder, yet language development varies considerably between affected individuals. With targeted therapies, including antisense oligonucleotides (ASOs), approaching clinical evaluation, understanding genotype-specific differences is increasingly important. We investigated whether expressive language and functional communication are associated with SynGAP protein domains and variant class. Methods We analyzed cross-sectional caregiver-reported data linked to genetic
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