Last Updated: 09/26/2026
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Found 12 publications
Electroencephalographic Transient Beta Event Rates in Autism and Related Neurogenetic Conditions.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 26, 2025
Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research.
Journal: Frontiers in neurology
Published: April 27, 2025
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.
Journal: Annals of clinical and translational neurology
Published: January 03, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
Journal: NPJ genomic medicine
Published: September 26, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Journal: JAMA network open
Published: July 20, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Journal: The Lancet. Neurology
Published: April 29, 2023
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Last Updated: 09/26/2026