Last Updated: 09/26/2026
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Found 36 publications
Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features.
Journal: American journal of medical genetics. Part A
Published: March 05, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study.
Journal: Pediatric neurology
Published: December 29, 2025
Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.
Journal: American journal of medical genetics. Part A
Published: August 27, 2025
Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 12, 2025
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes.
Journal: American journal of medical genetics. Part A
Published: July 21, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Journal: Human molecular genetics
Published: April 08, 2025
Influential Factors for Disclosing a Tuberous Sclerosis Complex Diagnosis to Romantic Partners.
Journal: Pediatric neurology
Published: April 07, 2025
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs Syndrome.
Journal: Molecular genetics & genomic medicine
Published: September 15, 2024
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.
Journal: Pediatric neurology
Published: March 05, 2024
Parenting Stress in Tuberous Sclerosis Complex.
Journal: Pediatric neurology
Published: January 08, 2024
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.
Journal: American journal of medical genetics. Part A
Published: November 27, 2023
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Journal: Gene
Published: April 04, 2023
Last Updated: 09/26/2026