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Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
Vanmolkot KR, Stroink H, Koenderink JB, Kors EE, van den Heuvel JJ, van den Boogerd EH, Stam AH, Haan J, De Vries BB, Terwindt GM, Frants RR, Ferrari MD, van den Maagdenberg AM. Vanmolkot KR, et al. Among authors: van den boogerd eh, van den maagdenberg am, van den heuvel jj. Ann Neurol. 2006 Feb;59(2):310-4. doi: 10.1002/ana.20760. Ann Neurol. 2006. PMID: 16437583
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM. Vanmolkot KR, et al. Among authors: van den maagdenberg am, van den heuvel jj. Eur J Hum Genet. 2006 May;14(5):555-60. doi: 10.1038/sj.ejhg.5201607. Eur J Hum Genet. 2006. PMID: 16538223
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. Vanmolkot KR, et al. Among authors: van den boogerd eh, van vark j, van den maagdenberg am, van den heuvel jj. Eur J Hum Genet. 2007 Aug;15(8):884-8. doi: 10.1038/sj.ejhg.5201841. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473835
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM. Castro MJ, et al. Among authors: van den maagdenberg am, van den heuvel jj. Clin Genet. 2008 Jan;73(1):37-43. doi: 10.1111/j.1399-0004.2007.00918.x. Epub 2007 Nov 19. Clin Genet. 2008. PMID: 18028456
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
de Vries B, Freilinger T, Vanmolkot KR, Koenderink JB, Stam AH, Terwindt GM, Babini E, van den Boogerd EH, van den Heuvel JJ, Frants RR, Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. de Vries B, et al. Among authors: van den boogerd eh, van den maagdenberg am, van den heuvel jj. Neurology. 2007 Dec 4;69(23):2170-6. doi: 10.1212/01.wnl.0000295670.01629.5a. Neurology. 2007. PMID: 18056581 Free article.
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
de Vries B, Stam AH, Kirkpatrick M, Vanmolkot KR, Koenderink JB, van den Heuvel JJ, Stunnenberg B, Goudie D, Shetty J, Jain V, van Vark J, Terwindt GM, Frants RR, Haan J, van den Maagdenberg AM, Ferrari MD. de Vries B, et al. Among authors: van vark j, van den maagdenberg am, van den heuvel jj. Epilepsia. 2009 Nov;50(11):2503-4. doi: 10.1111/j.1528-1167.2009.02186.x. Epilepsia. 2009. PMID: 19874388 Free article. No abstract available.
61 results