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Fulminant Anti-Myelin Oligodendrocyte Glycoprotein-Associated Cerebral Cortical Encephalitis: Case Series of a Severe Pediatric Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Phenotype.
Kannan V, Sandweiss AJ, Erickson TA, Yarimi JM, Ankar A, Hardwick VA, Shukla NM, Lotze TE, Risen SR, Riviello JJ, Lai YC, Moeller KK, Fisher K. Kannan V, et al. Among authors: riviello jj. Pediatr Neurol. 2023 Oct;147:36-43. doi: 10.1016/j.pediatrneurol.2023.07.002. Epub 2023 Jul 11. Pediatr Neurol. 2023. PMID: 37544084
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Müller P, Takacs DS, Hedrich UBS, Coorg R, Masters L, Glinton KE, Dai H, Cokley JA, Riviello JJ, Lerche H, Cooper EC. Müller P, et al. Among authors: riviello jj. Ann Clin Transl Neurol. 2023 Apr;10(4):656-663. doi: 10.1002/acn3.51742. Epub 2023 Feb 15. Ann Clin Transl Neurol. 2023. PMID: 36793218 Free PMC article.
146 results