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Page 1
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP, Sands CF, Juan IR, Mitchell J, Ravanmehr V, Butts JC, De-Paula RB, Kim Y, Hu F, Wang Q, Vitsios D, Garg M, Middleton L, Tyrlik M, Messa M, Del Angel G, Calame DG, Saade H, Robak L, Hollis B, Cuddapah VA, Zoghbi HY, Shulman JM, Petrovski S, Al-Ramahi I, Tachmazidou I, Dhindsa RS. Spargo TP, et al. Among authors: cuddapah va. Cell Rep. 2025 Mar 25;44(3):115355. doi: 10.1016/j.celrep.2025.115355. Epub 2025 Mar 7. Cell Rep. 2025. PMID: 40056900 Free PMC article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: cuddapah va. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Sleepiness, not total sleep amount, increases seizure risk.
Cuddapah VA, Hsu CT, Li Y, Shah HM, Saul C, Killiany S, Shon J, Yue Z, Gionet G, Putt ME, Sehgal A. Cuddapah VA, et al. bioRxiv [Preprint]. 2023 Oct 2:2023.09.30.560325. doi: 10.1101/2023.09.30.560325. bioRxiv. 2023. PMID: 37873373 Free PMC article. Preprint.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA. Parthasarathy S, et al. Among authors: cuddapah va. Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413998 Free PMC article.
REVing up the Brain: A Mechanism Driving Seizure Timing.
Cuddapah VA, Goldberg EM. Cuddapah VA, et al. Epilepsy Curr. 2021 Oct 21;22(1):64-65. doi: 10.1177/15357597211054257. eCollection 2022 Jan-Feb. Epilepsy Curr. 2021. PMID: 35233204 Free PMC article. No abstract available.
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