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Epilepsia|June 7, 2024
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?Emma Young, Rebekah Harris, Nico Lieffering, et al.Journal of Medical Genetics|January 25, 2024
Genotype and phenotype correlation of PHACTR1-related neurological disordersZhao Xu, Lynette Sadleir, Himanshu Goel, et al.BMC Complementary Medicine and Therapies|January 29, 2024
Mānuka oil based ECMT-154 versus vehicle control for the topical treatment of eczema: study protocol for a randomised controlled trial in community pharmacies in Aotearoa New ZealandGabrielle Shortt, Nicholas Shortt, Georgina Bird, et al.Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesJacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.Nature Communications|August 6, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Pageof 1