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Page 1
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Møller RS, Lim KS, Hamandi K, Greenberg DA, Gesche J, Gardella E, Fong CY, Beier CP, Andrade DM, Jungbluth H, Richardson MP, Pastore A, Fanto M, Pal DK, Strug LJ; BIOJUME Consortium. Roshandel D, et al. Among authors: moller rs. NPJ Genom Med. 2023 Sep 28;8(1):28. doi: 10.1038/s41525-023-00370-z. NPJ Genom Med. 2023. PMID: 37770509 Free PMC article.
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Møller RS, et al. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781031 Free PMC article.
Early mortality in SCN8A-related epilepsies.
Johannesen KM, Gardella E, Scheffer I, Howell K, Smith DM, Helbig I, Møller RS, Rubboli G. Johannesen KM, et al. Among authors: moller rs. Epilepsy Res. 2018 Jul;143:79-81. doi: 10.1016/j.eplepsyres.2018.04.008. Epub 2018 Apr 13. Epilepsy Res. 2018. PMID: 29677576
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK. Oates S, et al. Among authors: moller rs. NPJ Genom Med. 2018 May 10;3:13. doi: 10.1038/s41525-018-0052-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 29760947 Free PMC article.
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: moller rs. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.
Pavlidis E, Møller RS, Nikanorova M, Kölmel MS, Stendevad P, Beniczky S, Tassinari CA, Rubboli G, Gardella E. Pavlidis E, et al. Among authors: moller rs. Epilepsy Behav. 2019 Aug;97:244-252. doi: 10.1016/j.yebeh.2019.05.030. Epub 2019 Jun 26. Epilepsy Behav. 2019. PMID: 31254844
290 results