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Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.

Oja KT, Ilisson M, Reinson K, et al. Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.29.23287640

SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis.

Stefanski A, Pérez-Palma E, Brünger T, et al. SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain : a journal of neurology. 2023. doi:10.1093/brain/awad292

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.

Bundalian L, Su YY, Chen S, et al. Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.06.004

Classification of missense variants in the N-methyl-D-aspartate receptor GRIN gene family as gain- or loss-of-function.

Myers SJ, Yuan H, Perszyk RE, et al. Classification of missense variants in the N-methyl-D-aspartate receptor GRIN gene family as gain- or loss-of-function. Human molecular genetics. 2023. doi:10.1093/hmg/ddad104

Technological and computational approaches to detect somatic mosaicism in epilepsy.

Boßelmann CM, Leu C, Lal D. Technological and computational approaches to detect somatic mosaicism in epilepsy. Neurobiology of disease. 2023:106208. doi:10.1016/j.nbd.2023.106208

Childhood seizures and risk of psychiatric disorders in adolescence and early adulthood: a Danish nationwide cohort study.

Dreier JW, Pedersen CB, Cotsapas C, Christensen J. Childhood seizures and risk of psychiatric disorders in adolescence and early adulthood: a Danish nationwide cohort study. Lancet Child Adolesc Health. 2019;3(2):99-108. doi:10.1016/S2352-4642(18)30351-1

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

Achkar CME, Harrer M, Smith L, et al. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021;89(3):573-586. doi:10.1002/ana.25985

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Kumar R, Gardner A, Homan CC, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018;39(8):1126-1138. doi:10.1002/humu.23557

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017;101(5):664-685. doi:10.1016/j.ajhg.2017.09.008

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Niestroj LM, Du J, Nothnagel M, et al. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018;59(11):2145-2152. doi:10.1111/epi.14579