Last Updated: 09/26/2026
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Found 25 publications
A prospective natural history study protocol for clinical trial readiness in synaptic disorders.
Journal: Epilepsia
Published: February 16, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.
Journal: medRxiv : the preprint server for health sciences
Published: February 12, 2026
Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.
Journal: Molecular psychiatry
Published: October 20, 2025
Quantification of neuromotor control in STXBP1 -Related Disorders with wearable sensors.
Journal: medRxiv : the preprint server for health sciences
Published: October 03, 2025
Clinical signatures of SYNGAP1-related disorders through data integration.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 14, 2025
SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics.
Journal: bioRxiv : the preprint server for biology
Published: January 07, 2025
Generation of humanized mouse models to support therapeutic development for SYNGAP1 and STXBP1 disorders.
Journal: bioRxiv : the preprint server for biology
Published: September 04, 2024
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics.
Journal: Brain : a journal of neurology
Published: May 09, 2024
Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders.
Journal: Current problems in pediatric and adolescent health care
Published: March 12, 2024
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.
Journal: Frontiers in cellular neuroscience
Published: February 28, 2023
Last Updated: 09/26/2026