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Ebiomedicine|January 6, 2026
Paediatric cerebrospinal fluid immune profiling distinguishes paediatric-onset multiple sclerosis from other paediatric-onset acute neurological disordersDiego A Espinoza, Tobias Zrzavy, Gautier Breville, et al.
Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.
Cell Stem Cell|February 2, 2021
Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genesParisha P Shah, Wenjian Lv, Joshua H Rhoades, et al.
Brain Communications|December 15, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Epilepsia|December 28, 2020
Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care systemZachary M Grinspan, Anup D Patel, Renée A Shellhaas, et al.
Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.
Molecular Genetics & Genomic Medicine|September 22, 2016
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patientsCarolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, et al.
Biorxiv : the Preprint Server for Biology|March 3, 2025
Comparative molecular landscapes of immature neurons in the mammalian dentate gyrus across species reveal special features in humansYi Zhou, Yijing Su, Qian Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
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