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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: christensen j. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: christensen j. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Skotte L, Fadista J, Bybjerg-Grauholm J, Appadurai V, Hildebrand MS, Hansen TF, Banasik K, Grove J, Albiñana C, Geller F, Bjurström CF, Vilhjálmsson BJ, Coleman M, Damiano JA, Burgess R, Scheffer IE, Pedersen OBV, Erikstrup C, Westergaard D, Nielsen KR, Sørensen E, Bruun MT, Liu X, Hjalgrim H, Pers TH, Mortensen PB, Mors O, Nordentoft M, Dreier JW, Børglum AD, Christensen J, Hougaard DM, Buil A, Hviid A, Melbye M, Ullum H, Berkovic SF, Werge T, Feenstra B. Skotte L, et al. Among authors: christensen j. Brain. 2022 Apr 18;145(2):555-568. doi: 10.1093/brain/awab260. Brain. 2022. PMID: 35022648 Free PMC article.
[Treatment of status epilepticus in children and adults].
Sidaros A, Boxill MF, Christensen J, Hoei-Hansen CE, Beier CP. Sidaros A, et al. Among authors: christensen j. Ugeskr Laeger. 2022 Jun 27;184(26):V02220079. Ugeskr Laeger. 2022. PMID: 35786229 Free article. Review. Danish.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: christensen j. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
Johannesen KM, Nielsen J, Sabers A, Isidor B, Kattentidt-Mouravieva AA, Zieglgänsberger D, Heidlebaugh AR, Oetjens KF, Vidal AA, Christensen J, Tiller J, Freed AN, Møller RS, Rubboli G. Johannesen KM, et al. Among authors: christensen j. Front Neurosci. 2023 Aug 17;17:1216653. doi: 10.3389/fnins.2023.1216653. eCollection 2023. Front Neurosci. 2023. PMID: 37662110 Free PMC article.
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T. Cockerell I, et al. Among authors: christensen j. Orphanet J Rare Dis. 2023 Dec 2;18(1):377. doi: 10.1186/s13023-023-02982-1. Orphanet J Rare Dis. 2023. PMID: 38042867 Free PMC article. Clinical Trial.
Oral contraceptives reduce lamotrigine plasma levels.
Sabers A, Ohman I, Christensen J, Tomson T. Sabers A, et al. Among authors: christensen j. Neurology. 2003 Aug 26;61(4):570-1. doi: 10.1212/01.wnl.0000076485.09353.7a. Neurology. 2003. PMID: 12939444
4,070 results