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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: gaily e. 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.
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG. Becker F, et al. Among authors: gaily e. J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9. J Neurol. 2013. PMID: 23299620 Review.
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W. Schwarz N, et al. Among authors: gaily e. Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7. Eur J Paediatr Neurol. 2019. PMID: 30928199
Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial.
van Arnhem MML, van den Munckhof B, Arzimanoglou A, Perucca E, Metsähonkala L, Rubboli G, Søndergaard Khinchi M, de Saint-Martin A, Klotz KA, Jacobs J, Cross JH, Garcia Morales I, Otte WM, van Teeseling HC, Leijten FSS, Braun KPJ, Jansen FE; RESCUE ESES study group. van Arnhem MML, et al. Lancet Neurol. 2024 Feb;23(2):147-156. doi: 10.1016/S1474-4422(23)00409-X. Epub 2023 Dec 8. Lancet Neurol. 2024. PMID: 38081201 Clinical Trial.
[Current anti-epilepsy drugs].
Iivanainen M, Gaily E. Iivanainen M, et al. Among authors: gaily e. Duodecim. 1995;111(8):751-8. Duodecim. 1995. PMID: 8681835 Review. Finnish. No abstract available.
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