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Annals of Neurology|February 11, 2026
Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer E Neil, Shyam K Akula, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Brain : a Journal of Neurology|June 25, 2020
Modelling and treating GRIN2A developmental and epileptic encephalopathy in miceAriadna Amador, Christopher D Bostick, Heather Olson, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Annals of Neurology|May 10, 2014
Copy number variation plays an important role in clinical epilepsyHeather Olson, Yiping Shen, Jennifer Avallone, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
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