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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: van rootselaar af, van den maagdenberg amjm. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
Myoclonus in comatose patients with electrographic status epilepticus after cardiac arrest: Corresponding EEG patterns, effects of treatment and outcomes.
Nutma S, Ruijter BJ, Beishuizen A, Tromp SC, Scholten E, Horn J, van den Bergh WM, van Kranen-Mastenbroek VH, Thomeer EC, Moudrous W, Aries M, van Putten MJ, Hofmeijer J; TELSTAR Investigators. Nutma S, et al. Resuscitation. 2023 May;186:109745. doi: 10.1016/j.resuscitation.2023.109745. Epub 2023 Feb 22. Resuscitation. 2023. PMID: 36822459 Clinical Trial.
The paroxysmal dyskinesias.
van Rootselaar AF, Schade van Westrum S, Velis DN, Tijssen MA. van Rootselaar AF, et al. Pract Neurol. 2009 Apr;9(2):102-9. doi: 10.1136/jnnp.2009.172213. Pract Neurol. 2009. PMID: 19289562 Review.
99 results