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307 results

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Page 1
Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A. Nissenkorn A, et al. Among authors: lerman sagie t. Epilepsia. 2023 Apr;64(4):866-874. doi: 10.1111/epi.17530. Epub 2023 Feb 20. Epilepsia. 2023. PMID: 36734057
Real-Life Experience With Purified Cannabidiol Treatment for Refractory Epilepsy: A Multicenter Retrospective Study.
Tzadok M, Gur-Pollack R, Florh H, Michaeli Y, Gilboa T, Lezinger M, Heyman E, Chernuha V, Gudis I, Nissenkorn A, Lerman-Sagie T, Ben Zeev B, Uliel-Sibony S. Tzadok M, et al. Among authors: lerman sagie t. Pediatr Neurol. 2024 Jan;150:91-96. doi: 10.1016/j.pediatrneurol.2023.10.012. Epub 2023 Oct 20. Pediatr Neurol. 2024. PMID: 37995414 Free article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: lerman sagie t. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Fetal intraventricular hemorrhage and periventricular hemorrhagic venous infarction: time for dedicated classification system.
Hadi E, Haddad L, Levy M, Gindes L, Hausman-Kedem M, Bassan H, Ben-Sira L, Libzon S, Kassif E, Hoffmann C, Leibovitz Z, Kasprian G, Lerman-Sagie T. Hadi E, et al. Among authors: lerman sagie t. Ultrasound Obstet Gynecol. 2024 Feb 16. doi: 10.1002/uog.27613. Online ahead of print. Ultrasound Obstet Gynecol. 2024. PMID: 38363592 No abstract available.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: lerman sagie t. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
Utility of genetic testing in children with leukodystrophy.
Zerem A, Libzon S, Ben Sira L, Meirson H, Hausman-Kedem M, Haviv N, Yosovich K, Mory A, Baris Feldman H, Lev D, Lerman-Sagie T, Fattal-Valevski A, Hacohen Y, Marom D. Zerem A, et al. Among authors: lerman sagie t. Eur J Paediatr Neurol. 2023 Jul;45:29-35. doi: 10.1016/j.ejpn.2023.05.008. Epub 2023 May 27. Eur J Paediatr Neurol. 2023. PMID: 37267771
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: lerman sagie t. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
307 results