Filadelfia

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article Expert accuracy and inter-rater agreement of “must-know” EEG findings for adult and child neurology residents (2023) Nascimento FA, Katyal R, Olandoski M, Gao H, Yap S, Matthews R, Rampp S, et al. Journal article D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery (2023) Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, et al. Journal article Focal epilepsies: Update on diagnosis and classification (2023) Nascimento FA, Friedman D, Peters JM, Bensalem-Owen M, Cendes F, Rampp S, Wirrell E, et al. Journal article X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (2022) Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, et al. Journal article The EpiPick algorithm to select appropriate antiseizure medications in patients with epilepsy: Validation studies and updates (2021) Asadi-Pooya AA, Beniczky S, Rubboli G, Sperling MR, Rampp S, Perucca E Journal article A web-based algorithm to rapidly classify seizures for the purpose of drug selection (2021) Beniczky S, Asadi-Pooya AA, Perucca E, Rubboli G, Tartara E, Meritam Larsen P, Ebrahimi S, et al. Journal article ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder (2021) Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, et al. Journal article PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (2021) Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, et al. Journal article