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Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, Taglialatela M, Oldham MS, Vigevano F, Holmes GL, Cilio MR. Sands TT, et al. Epilepsia. 2016 Dec;57(12):2019-2030. doi: 10.1111/epi.13596. Epub 2016 Nov 26. Epilepsia. 2016. PMID: 27888506 Free article.
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Among authors: sands tt. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
Lack of response to quinidine in KCNT1-related neonatal epilepsy.
Numis AL, Nair U, Datta AN, Sands TT, Oldham MS, Patel A, Li M, Gazina E, Petrou S, Cilio MR. Numis AL, et al. Among authors: sands tt. Epilepsia. 2018 Oct;59(10):1889-1898. doi: 10.1111/epi.14551. Epub 2018 Sep 4. Epilepsia. 2018. PMID: 30182418
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: sands tt. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Among authors: sands tt. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: sands tt. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
41 results