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Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
Neurology|December 31, 2017
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patientsMark McCormack, Hongsheng Gui, Andrés Ingason, et al.
Frontiers in Pediatrics|May 23, 2022
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter CohortChiara Po', Margherita Nosadini, Marialuisa Zedde, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, 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.
Brain : a Journal of Neurology|April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Brain : a Journal of Neurology|August 14, 2025
Associations between epilepsy-related polygenic risk and brain morphology in childhoodAlexander Ngo, Lang Liu, Sara Larivière, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
ASSOCIATIONS BETWEEN EPILEPSY-RELATED POLYGENIC RISK AND BRAIN MORPHOLOGY IN CHILDHOODAlexander Ngo, Lang Liu, Sara Larivière, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
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