Last Updated: 09/26/2026
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Found 240 publications
Electroencephalographic Transient Beta Event Rates in Autism and Related Neurogenetic Conditions.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.
Journal: JAMA neurology
Published: May 04, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.
Journal: medRxiv : the preprint server for health sciences
Published: April 20, 2026
Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: March 23, 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
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
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.
Journal: Neurology
Published: February 13, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: February 09, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: February 09, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.
Journal: Molecular genetics and metabolism
Published: January 19, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?
Journal: NPJ genomic medicine
Published: December 27, 2025
Early death and neuronal abnormalities in depdc5 loss-of-function mosaic zebrafish models.
Journal: bioRxiv : the preprint server for biology
Published: December 22, 2025
Last Updated: 09/26/2026