Last Updated: 09/26/2026
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Found 92 publications
Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy.
Journal: Epilepsy & behavior : E&B
Published: July 16, 2025
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy.
Journal: Developmental medicine and child neurology
Published: May 02, 2025
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Journal: American journal of human genetics
Published: December 08, 2023
Proposed anti-seizure medication combinations with rufinamide in the treatment of Lennox-Gastaut syndrome: Narrative review and expert opinion.
Journal: Seizure
Published: March 30, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 28, 2023
Epilepsy-associated SCN2A (Na V 1.2) Variants Exhibit Diverse and Complex Functional Properties.
Journal: bioRxiv : the preprint server for biology
Published: March 03, 2023
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
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Journal: The Journal of general physiology
Published: February 25, 2023
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Journal: Journal of neurophysiology
Published: May 18, 2022
Comparison of Cosyntropin, Vigabatrin, and Combination Therapy in New-Onset Infantile Spasms in a Prospective Randomized Trial.
Journal: Journal of child neurology
Published: January 19, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Journal: Brain : a journal of neurology
Published: April 08, 2021
Last Updated: 09/26/2026