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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321.
Brain. 2022.
PMID: 34431999
Free PMC article.
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
Gjerulfsen CE, Møller RS, Fenger CD, Hammer TB, Bayat A.
Gjerulfsen CE, et al.
Eur J Med Genet. 2021 Jul;64(7):104246. doi: 10.1016/j.ejmg.2021.104246. Epub 2021 May 18.
Eur J Med Genet. 2021.
PMID: 34020006
Review.
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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group.
Johannesen KM, et al. Among authors: gjerulfsen ce.
Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec.
Neurol Genet. 2021.
PMID: 34790866
Free PMC article.
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Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
Gjerulfsen CE, Krey I, Klöckner C, Rubboli G, Lemke JR, Møller RS.
Gjerulfsen CE, et al.
Methods Mol Biol. 2024;2799:1-11. doi: 10.1007/978-1-0716-3830-9_1.
Methods Mol Biol. 2024.
PMID: 38727899
Review.
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Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group.
Cetica V, et al.
Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16.
Epilepsia. 2024.
PMID: 38491959
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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á.
Juliá-Palacios N, et al. Among authors: gjerulfsen ce.
Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041.
Brain. 2024.
PMID: 38380699
Clinical Trial.
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Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant.
Gjerulfsen CE, Mieszczanek TS, Johannesen KM, Liao VWY, Chebib M, Nørby HAJ, Gardella E, Rubboli G, Ahring P, Møller RS.
Gjerulfsen CE, et al.
Ann Clin Transl Neurol. 2023 Aug;10(8):1493-1498. doi: 10.1002/acn3.51838. Epub 2023 Jul 11.
Ann Clin Transl Neurol. 2023.
PMID: 37434477
Free PMC article.
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