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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Nature Communications|October 31, 2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.
Epilepsia|February 27, 2024
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy studyRebecca Kerestes, Andrew Perry, Lucy Vivash, et al.
Brain Communications|July 31, 2026
Disease detection and classification in temporal lobe epilepsy: step-wise versus simultaneous AI decision models in a multisite neuroimaging studyErik Kaestner, Jay Sawant, Donatello Arienzo, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
Biorxiv : the Preprint Server for Biology|November 14, 2023
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy studyRebecca Kerestes, Andrew Perry, Lucy Vivash, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
Biorxiv : the Preprint Server for Biology|June 22, 2026
Sex-related structural alterations across common epilepsies: a worldwide ENIGMA studyHuantao Wen, Bin Wan, Taha Gholipour, et al.
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