
Last Updated: 09/26/2026
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Found 21 publications
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2026
Timing for Starting Antiseizure Medication Withdrawal After Epilepsy Surgery in Adults.
Journal: Neurology
Published: January 27, 2026
Reply to "Semiology Timing and Seizure Patterns: Improving Surgical Decision-Making in Insular Epilepsy".
Journal: Annals of neurology
Published: October 01, 2025
Olig2-specific loss-of-function Slc35a2 results in hypomyelination and spontaneous seizures.
Journal: Epilepsia
Published: May 27, 2025
Paired blood and brain tissue methylation biomarkers in focal cortical dysplasia.
Journal: Brain communications
Published: January 24, 2025
Anterior Versus Posterior Insular Epilepsy: Correlations with Semiology Based on Stereoelectroencephalography.
Journal: Annals of neurology
Published: November 08, 2024
GLUT1 and cerebral glucose hypometabolism in human focal cortical dysplasia is associated with hypermethylation of key glucose regulatory genes.
Journal: Research square
Published: November 01, 2024
GLUT1 and Cerebral Glucose Hypometabolism in Human Focal Cortical Dysplasia Is Associated with Hypermethylation of Key Glucose Regulatory Genes.
Journal: Molecular neurobiology
Published: August 20, 2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Journal: Brain : a journal of neurology
Published: December 16, 2022
Last Updated: 09/26/2026