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Page 1
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL. Tokatly Latzer I, et al. Among authors: tsuboyama m. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. J Neurodev Disord. 2024. PMID: 38658850 Free PMC article.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Hanson E, Bertoldi M, García-Cazorla À, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB, Pearl PL; SSADH Deficiency Investigators Consortium. Tokatly Latzer I, et al. Among authors: tsuboyama m. Dev Med Child Neurol. 2023 Dec;65(12):1596-1606. doi: 10.1111/dmcn.15659. Epub 2023 May 28. Dev Med Child Neurol. 2023. PMID: 37246331 Free article.
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.
D'Gama AM, Phillips HW, Wang Y, Chiu MY, Chahine Y, Swanson AC, Smith RS, Pearl PL, Tsuboyama M, Madsen JR, Lidov H, Lee EA, Prabhu SP, Huang AY, Stone SSD, Walsh CA, Poduri A. D'Gama AM, et al. Among authors: tsuboyama m. medRxiv [Preprint]. 2024 Jul 22:2024.07.21.24310779. doi: 10.1101/2024.07.21.24310779. medRxiv. 2024. PMID: 39108522 Free PMC article. Preprint.
Discrepant expressive language lateralization in children and adolescents with epilepsy.
Pasichnik A, Tsuboyama M, Jannati A, Vega C, Kaye HL, Damar U, Bolton J, Stone SSD, Madsen JR, Suarez RO, Rotenberg A. Pasichnik A, et al. Among authors: tsuboyama m. Ann Clin Transl Neurol. 2022 Sep;9(9):1459-1464. doi: 10.1002/acn3.51594. Epub 2022 Aug 24. Ann Clin Transl Neurol. 2022. PMID: 36000540 Free PMC article.
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Papadelis C, Ntolkeras G, Tokatly Latzer I, DiBacco ML, Afacan O, Warfield S, Shi X, Roullet JB, Gibson KM; SSADH Deficiency Investigators Consortium; Pearl PL. Papadelis C, et al. Brain Commun. 2023 Oct 25;5(6):fcad291. doi: 10.1093/braincomms/fcad291. eCollection 2023. Brain Commun. 2023. PMID: 37953848 Free PMC article.
30 results