Last Updated: 09/26/2026
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Found 82 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
Guidance on communication and informed consent with patients and their families for experimental individualized treatments.
Journal: American journal of human genetics
Published: December 19, 2025
Predicting pediatric epilepsy surgery outcomes via a multidisciplinary epilepsy surgery conference survey.
Journal: Epilepsy research
Published: December 08, 2025
Associations between EEG measures and clinical severity in CDKL5 deficiency disorder.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: December 04, 2025
Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists.
Journal: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence
Published: November 27, 2025
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Evaluation of epilepsy in 8p-related disorders.
Journal: Epilepsy research
Published: October 14, 2025
Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).
Journal: Journal of child neurology
Published: September 03, 2025
Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.
Journal: Journal of child neurology
Published: August 06, 2025
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.
Journal: Brain and behavior
Published: July 21, 2025
Last Updated: 09/26/2026