| 1 | ATP1A2, MHP2
|
| Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review.
|
| Schwarz G, Anzalone N, Baldoli C, Impellizzeri M, Minicucci F, Comi G, Colombo B.
|
| Neurol Sci. Jun;39(Suppl 1):69-71. doi: 10.1007/s10072-018-3405-3. 2018
|
| 2 | ATP1A2, ATP1A3, DYT12, MHP2
|
| Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.
|
| Ashmore LJ, Hrizo SL, Paul SM, Van Voorhies WA, Beitel GJ, Palladino MJ.
|
| Hum Genet 126(3):431-47. Epub 2009 May 12.PMID: 19455355 2009
|
| 3 | ATP1A2, MHP2
|
| 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.
|
| Epilepsia 50(11):2503-4. No abstract available. PMID: 19874388 2009
|
| 4 | ATP1A2, MHP2
|
| 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.
|
| Clin Genet 73(1):37-43. Epub 2007 Nov 19. 2008
|
| 5 | ATP1A2, MHP2
|
| Epilepsy as part of the phenotype associated with ATP1A2 mutations.
|
| Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P.
|
| Epilepsia 49(3):500-8. Epub 2007 Nov 19.PMID: 18028407 2008
|
| 6 | MHP2, ATP1A2
|
| 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.
|
| Eur J Hum Genet 15(8):884-8. Epub 2007 May 2. 2007
|
| 7 | ATP1A2, MHP2
|
| Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
|
| Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KR, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AM.
|
| J Hum Genet 52(12):990-8. Epub 2007 Oct 19. 2007
|
| 8 | ATP1A2, MHP2
|
| Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.
|
| Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F, Candelise L, Bresolin N, Bassi MT.
|
| Clin Genet 72(6):517-23. Epub 2007 Sep 18. 2007
|
| 9 | ATP1A2, MHP2
|
| 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.
|
| Eur J Hum Genet 14(5):555-60. 2006
|
| 10 | ATP1A2, MHP2
|
| 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.
|
| Ann Neurol 59(2):310-4. 2006
|
| 11 | ATP1A2, MHP2
|
| Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.
|
| Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R.
|
| Proc Natl Acad Sci U S A 102(31):11106-11. Epub 2005 Jul 21. 2005
|
| 12 | MHP2, ATP1A2
|
| Familial basilar migraine associated with a new mutation in the ATP1A2 gene.
|
| Ambrosini A, D'Onofrio M, Grieco GS, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi MG, Santorelli FM, Pierelli F.
|
| Neurology 65(11):1826-8. 2005
|
| 13 | MHP2, ATP1A2, AHPC
|
| A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
|
| Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G.
|
| J Med Genet 41(8):621-8. No abstract available. 2004
|
| 14 | ATP1A2, MHP2
|
| Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2
|
| De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G.
|
| Nat Genet 33(2):192-6. 2003
|
| 15 | ATP1A2, MHP2
|
| Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
|
| Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM.
|
| Ann Neurol 54(3):360-6. 2003
|
| 16 | MHP2
|
| Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1.
|
| Echenne B, Ducros A, Rivier F, Joutel A, Humbertclaude V, Roubertie A, Azais M, Bousser MG, Tournier-Lasserve E.
|
| Neuropediatrics 30(4):214-7 1999
|
| 17 | MHP2
|
| Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity.
|
| Ducros A, Joutel A, Vahedi K, Cecillon M, Ferreira A, Bernard E, Verier A, Echenne B, Lopez de Munain A, Bousser MG, Tournier-Lasserve E.
|
| Ann Neurol 42(6):885-90. 1997
|