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Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
Bonardi CM, Mignot C, Serratosa JM, Giraldez BG, Moretti R, Rudolf G, Reale C, Gellert PM, Johannesen KM, Lesca G, Tassinari CA, Gardella E, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: moller rs. Clin Neurophysiol. 2020 May;131(5):1030-1039. doi: 10.1016/j.clinph.2020.01.020. Epub 2020 Feb 13. Clin Neurophysiol. 2020. PMID: 32197126
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Gardella E, et al. Among authors: moller rs. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13. Ann Neurol. 2016. PMID: 26677014
Reply.
Gardella E, Beniczky S, Møller RS, Becker F, Lemke JR, Syrbe S, Eiberg H, Bast T, Steinhoff B, Nürnberg P, Gellert P, Dahl HA, Weckhuysen S, Heron SE, Dibbens LM, Hjalgrim H, Lerche H, Weber YG. Gardella E, et al. Among authors: moller rs. Ann Neurol. 2016 Jul;80(1):168-9. doi: 10.1002/ana.24669. Epub 2016 May 10. Ann Neurol. 2016. PMID: 27098683 No abstract available.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: moller rs. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group. Djémié T, et al. Among authors: moller rs. Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27465585 Free PMC article.
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. Johannesen K, et al. Among authors: moller rs. Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12. Neurology. 2016. PMID: 27521439
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.
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. Møller RS, et al. Neurol Genet. 2016 Oct 31;2(6):e118. doi: 10.1212/NXG.0000000000000118. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830187 Free PMC article.
290 results