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Current Opinion in Neurology|February 10, 2023
The current landscape of epilepsy genetics: where are we, and where are we going?Sarah M Ruggiero, Julie Xian, Ingo Helbig
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with STXBP1 Related Disorders and SYNGAP1 Related DisordersSamuel R Pierce, Julie M Orlando, Kristin G Cunningham, et al.
Developmental Medicine and Child Neurology|April 11, 2026
Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disordersSamuel R Pierce, Julie M Orlando, Kristin G Cunningham, et al.
Frontiers in Neurology|April 20, 2023
Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticusDanielle deCampo, Julie Xian, Alexis Karlin, et al.
Epilepsia|November 11, 2025
Clinical trajectories and medication response in TBC1D24-related epilepsiesEaling Mondragon, Jan H Magielski, Bintou Bane, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individualsJan Magielski, Sarah M Ruggiero, Julie Xian, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Early life seizures and epileptic spasms in STXBP1-related disordersKim M Thalwitzer, Julie Xian, Danielle deCampo, et al.
Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-YearsAnna J Prentice, Ian McSalley, Jan H Magielski, et al.
Epilepsia|January 27, 2024
Early life seizures and epileptic spasms in STXBP1-related disordersKim M Thalwitzer, Julie Xian, Danielle de Campo, et al.
Brain : a Journal of Neurology|October 16, 2024
The clinical and genetic spectrum of paediatric speech and language disordersJan H Magielski, Sarah M Ruggiero, Julie Xian, et al.
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