ATP1A2-v1

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. 2003 Feb; 33(2):192-6. Epub 1969 Dec 31.

PMID: 12539047.

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

Vanmolkot KRJ, Kors EE, Hottenga J-J, Terwindt GM, Haan J, Hoefnagels WAJ, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AMJM

Ann Neurol. 2003 Sep; 54(3):360-6.

PMID: 12953268.

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.

Kaunisto MA, Harno H, Vanmolkot KRJ, Gargus JJ, Sun G, Hämäläinen E, Liukkonen E, Kallela M, van den Maagdenberg AMJM, Frants RR, Färkkilä M, Palotie A, Wessman M

Neurogenetics. 2004 Jun; 5(2):141-6. Epub 1969 Dec 31.

PMID: 15133718.

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S

Ann Neurol. 2004 Jun; 55(6):884-7.

PMID: 15174025.

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.

Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Liana V, Antonini G, Giovanni A, Giunti P, Paola G, Frontali M, Jurkat-Rott K

Neurogenetics. 2004 Sep; 5(3):177-85. Epub 1969 Dec 31.

PMID: 15459825.

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.

Jurkat-Rott K, Freilinger T, Dreier JP, Herzog J, Göbel H, Petzold GC, Montagna P, Gasser T, Lehmann-Horn F, Dichgans M

Neurology. 2004 May 25; 62(10):1857-61.

PMID: 15159495.

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser M G, Casari G, Tournier-Lasserve E

Hum Mutat. 2005 Sep; 26(3):281.

PMID: 16088919.

Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.

Vanmolkot KRJ, Stroink H, Koenderink JB, Kors EE, van den Heuvel JJMW, van den Boogerd EH, Stam AH, Haan J, De Vries BBA, Terwindt GM, Frants RR, Ferrari MD, van den Maagdenberg AMJM

Ann Neurol. 2006 Feb; 59(2):310-4.

PMID: 16437583.

A novel ATP1A2 mutation in a family with FHM type II.

Pierelli F, Grieco GS, Pauri F, Pirro C, Fiermonte G, Ambrosini A, Costa A, Buzzi MG, Valoppi M, Caltagirone C, Nappi G, Santorelli FM

Cephalalgia. 2006 Mar; 26(3):324-8.

PMID: 16472340.

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Vanmolkot KRJ, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LAM, Kia S K, van den Heuvel JJMW, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AMJM

Eur J Hum Genet. 2006 May; 14(5):555-60.

PMID: 16538223.

The genetic spectrum of a population-based sample of familial hemiplegic migraine.

Thomsen LL, Kirchmann M, Bjornsson A, Stefansson H, Jensen RM, Fasquel AC, Petursson H, Stefansson M, Frigge ML, Kong A, Gulcher J, Stefansson K, Olesen J

Brain. 2007 Feb; 130(Pt 2):346-56. Epub 2006 Dec 02.

PMID: 17142831.

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

Vanmolkot KRJ, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJMW, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AMJM

Eur J Hum Genet. 2007 Aug; 15(8):884-8. Epub 2007 May 02.

PMID: 17473835.

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. 2007 Dec; 72(6):517-23. Epub 2007 Sep 18.

PMID: 17877748.

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

Castro M-J, Stam AH, Lemos C, Barros J, Gouveia RG, Martins I P, Koenderink JB, Vanmolkot KRJ, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AMJM

J Hum Genet. 2007; 52(12):990-8. Epub 2007 Oct 19.

PMID: 17952365.

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

Castro M-J, Nunes B, de Vries B, Lemos C, Vanmolkot KRJ, van den Heuvel JJMW, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AMJM

Clin Genet. 2008 Jan; 73(1):37-43. Epub 2007 Nov 19.

PMID: 18028456.

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Fernandez DM, Hand CK, Sweeney BJ, Parfrey NA

Headache. 2008 Jan; 48(1):101-8.

PMID: 18184292.

Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.

Lebas A, Guyant-Maréchal L, Hannequin D, Riant F, Tournier-Lasserve E, Parain D

Cephalalgia. 2008 Jul; 28(7):774-7. Epub 2008 May 21.

PMID: 18498390.

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 KRJ, Koenderink JB, van den Heuvel JJMW, Stunnenberg B, Goudie D, Shetty J, Jain V, van Vark J, Terwindt GM, Frants RR, Haan J, van den Maagdenberg AMJM, Ferrari MD

Epilepsia. 2009 Nov; 50(11):2503-4.

PMID: 19874388.

The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine.

Gallanti A, Cardin V, Tonelli A, Bussone G, Bresolin N, Mariani C, Bassi MT

Neurol Sci. 2011 May; 32 Suppl 1:S141-2.

PMID: 21533730.

Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.

Iizuka T, Takahashi Y, Sato M, Yonekura J, Miyakawa S, Endo M, Hamada J, Kan S, Mochizuki H, Momose Y, Tsuji S, Sakai F

J Neurol Neurosurg Psychiatry. 2011 Oct 19.

PMID: 22013243.

A Case of Familial Hemiplegic Migraine Associated With a Novel ATP1A2 Gene Mutation.

De Cunto A, Bensa M, Tonelli A

Pediatr Neurol. 2012 Aug; 47(2):133-6.

PMID: 22759692.

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