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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.
Startle syndromes.
Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Bakker MJ, et al. Lancet Neurol. 2006 Jun;5(6):513-24. doi: 10.1016/S1474-4422(06)70470-7. Lancet Neurol. 2006. PMID: 16713923 Review.
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Dibbens LM, et al. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542697
PRRT2 and hemiplegic migraine: a complex association.
Pelzer N, de Vries B, Kamphorst JT, Vijfhuizen LS, Ferrari MD, Haan J, van den Maagdenberg AM, Terwindt GM. Pelzer N, et al. Neurology. 2014 Jul 15;83(3):288-90. doi: 10.1212/WNL.0000000000000590. Epub 2014 Jun 13. Neurology. 2014. PMID: 24928127 No abstract available.
Cortical Spreading Depression Causes Unique Dysregulation of Inflammatory Pathways in a Transgenic Mouse Model of Migraine.
Eising E, Shyti R, 't Hoen PAC, Vijfhuizen LS, Huisman SMH, Broos LAM, Mahfouz A, Reinders MJT, Ferrari MD, Tolner EA, de Vries B, van den Maagdenberg AMJM. Eising E, et al. Among authors: van den maagdenberg amjm. Mol Neurobiol. 2017 May;54(4):2986-2996. doi: 10.1007/s12035-015-9681-5. Epub 2016 Mar 31. Mol Neurobiol. 2017. PMID: 27032388 Free PMC article.
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.
van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM. van Rootselaar AF, et al. Among authors: van den maagdenberg amjm. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10. Neurology. 2017. PMID: 29127138
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.
Pelzer N, Haan J, Stam AH, Vijfhuizen LS, Koelewijn SC, Smagge A, de Vries B, Ferrari MD, van den Maagdenberg AMJM, Terwindt GM. Pelzer N, et al. Among authors: van den maagdenberg amjm. Neurology. 2018 Feb 13;90(7):e575-e582. doi: 10.1212/WNL.0000000000004966. Epub 2018 Jan 17. Neurology. 2018. PMID: 29343472
279 results