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Epilepsia|December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical developmentJérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Cell Stem Cell|November 4, 2022
A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespanYijing Su, Yi Zhou, Mariko L Bennett, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Epilepsia|June 2, 2021
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approachMark P Fitzgerald, Michael C Kaufman, Shavonne L Massey, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsy Research|July 30, 2015
Investigation of GRIN2A in common epilepsy phenotypesDennis Lal, Sandra Steinbrücker, Julian Schubert, et al.
Developmental Cell|May 8, 2021
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearingTingfang Chen, Alex M Rohacek, Matthew Caporizzo, et al.
Molecular Genetics and Metabolism Reports|November 24, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatureJessica R C Priestley, Lisa M Pace, Kuntal Sen, et al.
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