References analysis of the Wikipedia article "Familial hemiplegic migraine" in the English version

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Stam AH, Luijckx GJ, Poll-Thé BT, Ginjaar IB, Frants RR, Haan J, Ferrari MD, Terwindt GM, van den Maagdenberg AM (2009). "Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation". J Neurol Neurosurg Psychiatry. 80 (10): 1125–1129. doi:10.1136/jnnp.2009.177279. PMID 19520699. S2CID 1000464.

Kors E, Terwindt G, Vermeulen F, Fitzsimons R, Jardine P, Heywood P, Love S, van den Maagdenberg A, Haan J, Frants R, Ferrari M (2001). "Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine". Ann Neurol. 49 (6): 753–60. doi:10.1002/ana.1031. PMID 11409427. S2CID 23340019.

Ophoff R, Terwindt G, Vergouwe M, van Eijk R, Oefner P, Hoffman S, Lamerdin J, Mohrenweiser H, Bulman D, Ferrari M, Haan J, Lindhout D, van Ommen G, Hofker M, Ferrari M, Frants R (1996). "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca²⁺
channel gene CACNL1A4". Cell. 87 (3): 543–52. doi:10.1016/S0092-8674(00)81373-2. hdl:1765/57576. PMID 8898206. S2CID 16840573.

Kraus R, Sinnegger M, Glossmann H, Hering S, Striessnig J (1998). "Familial hemiplegic migraine mutations change alpha1A Ca²⁺
channel kinetics". J Biol Chem. 273 (10): 5586–90. doi:10.1074/jbc.273.10.5586. PMID 9488686.

Hans M, Luvisetto S, Williams M, Spagnolo M, Urrutia A, Tottene A, Brust P, Johnson E, Harpold M, Stauderman K, Pietrobon D (1999). "Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine". J Neurosci. 19 (5): 1610–9. doi:10.1523/JNEUROSCI.19-05-01610.1999. PMC 6782159. PMID 10024348.

Melliti K, Grabner M, Seabrook G (2003). "The familial hemiplegic migraine mutation R192q reduces G-protein-mediated inhibition of p/q-type (Cav2.1) calcium channels expressed in human embryonic kidney cells". J Physiol. 546 (Pt 2): 337–47. doi:10.1113/jphysiol.2002.026716. PMC 2342512. PMID 12527722.

van den Maagdenberg A, Pietrobon D, Pizzorusso T, Kaja S, Broos L, Cesetti T, van de Ven R, Tottene A, van der Kaa J, Plomp J, Frants R, Ferrari M (2004). "A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression". Neuron. 41 (5): 701–10. doi:10.1016/S0896-6273(04)00085-6. hdl:11577/1481527. PMID 15003170. S2CID 1456789.

Cao Y, Tsien R (2005). "Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca²⁺
channel activity and inhibitory synaptic transmission". Proc Natl Acad Sci USA. 102 (7): 2590–5. doi:10.1073/pnas.0409896102. PMC 548328. PMID 15699344.

Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser M, Tournier-Lasserve E (2001). "The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel". N Engl J Med. 345 (1): 17–24. doi:10.1056/NEJM200107053450103. PMID 11439943.

Tottene A, Pivotto F, Fellin T, Cesetti T, van den Maagdenberg A, Pietrobon D (2005). "Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma". J Biol Chem. 280 (18): 17678–86. doi:10.1074/jbc.M501110200. hdl:11577/1481524. PMID 15743764.

Battistini S, Stenirri S, Piatti M, Gelfi C, Righetti P, Rocchi R, Giannini F, Battistini N, Guazzi G, Ferrari M, Carrera P (1999). "A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia". Neurology. 53 (1): 38–43. doi:10.1212/WNL.53.1.38. PMID 10408534. S2CID 32390280.

Kraus R, Sinnegger M, Koschak A, Glossmann H, Stenirri S, Carrera P, Striessnig J (2000). "Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics". J Biol Chem. 275 (13): 9239–43. doi:10.1074/jbc.275.13.9239. PMID 10734061.

Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C, Pietrobon D (2002). "Familial hemiplegic migraine mutations increase Ca²⁺
influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons". Proc Natl Acad Sci USA. 99 (20): 13284–9. doi:10.1073/pnas.192242399. PMC 130625. PMID 12235360.

Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P (2003). "Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family". Arch Neurol. 60 (4): 610–4. doi:10.1001/archneur.60.4.610. hdl:10400.16/349. PMID 12707077.

Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J, Hirsch E, Chedru F, Bisgård C, Lucotte G, Després P, Billard C, Barthez M, Ponsot G, Bousser M, Tournier-Lasserve E (1999). "Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia". Am J Hum Genet. 64 (1): 89–98. doi:10.1086/302192. PMC 1377706. PMID 9915947.

Friend K, Crimmins D, Phan T, Sue C, Colley A, Fung V, Morris J, Sutherland G, Richards R (1999). "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM". Hum Genet. 105 (3): 261–5. doi:10.1007/s004390051099 (inactive 2024-04-26). PMID 10987655.{{cite journal}}: CS1 maint: DOI inactive as of April 2024 (link)

Barrett C, Cao Y, Tsien R (2005). "Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel". J Biol Chem. 280 (25): 24064–71. doi:10.1074/jbc.M502223200. PMID 15795222.

Müllner C, Broos L, van den Maagdenberg A, Striessnig J (2004). "Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca²⁺
channel gating: evidence for beta-subunit isoform-specific effects". J Biol Chem. 279 (50): 51844–50. doi:10.1074/jbc.M408756200. PMID 15448138.

Alonso I, Barros J, Tuna A, Seixas A, Coutinho P, Sequeiros J, Silveira I (2004). "A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine". Clin Genet. 65 (1): 70–2. doi:10.1111/j..2004.00187.x. PMID 15032980. S2CID 45747611.

Vahedi K, Denier C, Ducros A, Bousson V, Levy C, Chabriat H, Haguenau M, Tournier-Lasserve E, Bousser M (2000). "CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy". Neurology. 55 (7): 1040–2. doi:10.1212/WNL.55.7.1040. PMID 11061267. S2CID 26855561.

Carrera P, Piatti M, Stenirri S, Grimaldi L, Marchioni E, Curcio M, Righetti P, Ferrari M, Gelfi C (1999). "Genetic heterogeneity in Italian families with familial hemiplegic migraine". Neurology. 53 (1): 26–33. doi:10.1212/WNL.53.1.26. PMID 10408532. S2CID 25604212.

Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gérard P, Devoize J, Gayou A, Perrouty B, Soisson T, Autret A, Warter J, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E (1999). "High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2". Neurology. 52 (9): 1816–21. doi:10.1212/WNL.52.9.1816. PMID 10371528. S2CID 39421883.

Jen J, Yue Q, Nelson S, Yu H, Litt M, Nutt J, Baloh R (1999). "A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia". Neurology. 53 (1): 34–7. doi:10.1212/WNL.53.1.34. PMID 10408533. S2CID 22046224.

Jen J, Wan J, Graves M, Yu H, Mock A, Coulin C, Kim G, Yue Q, Papazian D, Baloh R (2001). "Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission". Neurology. 57 (10): 1843–8. doi:10.1212/WNL.57.10.1843. PMID 11723274. S2CID 23258478.

Beauvais K, Cavé-Riant F, De Barace C, Tardieu M, Tournier-Lasserve E, Furby A (2004). "New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus". Eur Neurol. 52 (1): 58–61. doi:10.1159/000079546. PMID 15240985. S2CID 35019951.

Kors E, Vanmolkot K, Haan J, Kheradmand Kia S, Stroink H, Laan L, Gill D, Pascual J, van den Maagdenberg A, Frants R, Ferrari M (2004). "Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2". Neuropediatrics. 35 (5): 293–6. doi:10.1055/s-2004-821082. PMID 15534763. S2CID 260241252.

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink J, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C (2005). "Rare missense variants in ATP1A2 in families with clustering of common forms of migraine". Hum Mutat. 26 (4): 315–21. doi:10.1002/humu.20229. PMID 16110494. S2CID 15851518.

Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser M, Casari G, Tournier-Lasserve E (2005). "ATP1A2 mutations in 11 families with familial hemiplegic migraine". Hum Mutat. 26 (3): 281. doi:10.1002/humu.9361. PMID 16088919.

Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Liana V, Antonini G, Giovanni A, Giunti P, Paola G, Frontali M, Jurkat-Rott K (2004). "A G301R Na⁺
/K⁺
-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs". Neurogenetics. 5 (3): 177–85. doi:10.1007/s10048-004-0183-2. PMID 15459825. S2CID 1480291.

Kaunisto M, Harno H, Vanmolkot K, Gargus J, Sun G, Hämäläinen E, Liukkonen E, Kallela M, van den Maagdenberg A, Frants R, Färkkilä M, Palotie A, Wessman M (2004). "A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2". Neurogenetics. 5 (2): 141–6. doi:10.1007/s10048-004-0178-z. PMID 15133718. S2CID 27379120.

Segall L, Scanzano R, Kaunisto M, Wessman M, Palotie A, Gargus J, Blostein R (2004). "Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2". J Biol Chem. 279 (42): 43692–6. doi:10.1074/jbc.M407471200. PMID 15308625.

Jurkat-Rott K, Freilinger T, Dreier J, Herzog J, Göbel H, Petzold G, Montagna P, Gasser T, Lehmann-Horn F, Dichgans M (2004). "Variability of familial hemiplegic migraine with novel A1A2 Na⁺
/K⁺
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Swoboda K, Kanavakis E, Xaidara A, Johnson J, Leppert M, Schlesinger-Massart M, Ptacek L, Silver K, Youroukos S (2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Ann Neurol. 55 (6): 884–7. doi:10.1002/ana.20134. PMID 15174025. S2CID 13430399.

Ambrosini A, D'Onofrio M, Grieco G, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi M, Santorelli F, Pierelli F (2005). "Familial basilar migraine associated with a new mutation in the ATP1A2 gene". Neurology. 65 (11): 1826–8. doi:10.1212/01.wnl.0000187072.71931.c0. PMID 16344534. S2CID 12870819.

Vanmolkot K, Kors E, Turk U, Turkdogan D, Keyser A, Broos L, Kia S, van den Heuvel J, Black D, Haan J, Frants R, Barone V, Ferrari M, Casari G, Koenderink J, van den Maagdenberg A (2006). "Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine". Eur J Hum Genet. 14 (5): 555–60. doi:10.1038/sj.ejhg.5201607. PMID 16538223.

Vanmolkot K, Stroink H, Koenderink J, Kors E, van den Heuvel J, van den Boogerd E, Stam A, Haan J, De Vries B, Terwindt G, Frants R, Ferrari M, van den Maagdenberg A (2006). "Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation". Ann Neurol. 59 (2): 310–4. doi:10.1002/ana.20760. PMID 16437583. S2CID 8626672.

Vanmolkot K, Kors E, Hottenga J, Terwindt G, Haan J, Hoefnagels W, Black D, Sandkuijl L, Frants R, Ferrari M, van den Maagdenberg A (2003). "Novel mutations in the Na⁺
, K⁺
-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions". Ann Neurol. 54 (3): 360–6. doi:10.1002/ana.10674. PMID 12953268. S2CID 43526424.

Segall L, Mezzetti A, Scanzano R, Gargus J, Purisima E, Blostein R (2005). "Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2". Proc Natl Acad Sci USA. 102 (31): 11106–11. Bibcode:2005PNAS..10211106S. doi:10.1073/pnas.0504323102. PMC 1178013. PMID 16037212.

Pierelli F, Grieco G, Pauri F, Pirro C, Fiermonte G, Ambrosini A, Costa A, Buzzi M, Valoppi M, Caltagirone C, Nappi G, Santorelli F (2006). "A novel ATP1A2 mutation in a family with FHM type II". Cephalalgia. 26 (3): 324–8. doi:10.1111/j.1468-2982.2006.01002.x. PMID 16472340. S2CID 33708885.

De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G (2003). "Haploinsufficiency of ATP1A2 encoding the Na⁺
/K⁺
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Koenderink J, Zifarelli G, Qiu L, Schwarz W, De Pont J, Bamberg E, Friedrich T (2005). "Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation". Biochim Biophys Acta. 1669 (1): 61–8. doi:10.1016/j.bbamem.2005.01.003. PMID 15843000.

Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari M, Herzog J, van den Maagdenberg A, Pusch M, Strom T (2005). "Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine". Lancet. 366 (9483): 371–7. doi:10.1016/S0140-6736(05)66786-4. PMID 16054936. S2CID 30365311.

Gardner K, Barmada M, Ptacek L, Hoffman E (1997). "A new locus for hemiplegic migraine maps to chromosome 1q31". Neurology. 49 (5): 1231–8. doi:10.1212/WNL.49.5.1231. PMID 9371899. S2CID 32611926.

Ducros, A (Apr 22, 2013). "[Genetics of migraine.]". Revue Neurologique. 169 (5): 360–71. doi:10.1016/j.neurol.2012.11.010. PMID 23618705.

Suzuki, M.; Van Paesschen, W.; Stalmans, I.; Horita, S.; Yamada, H.; Bergmans, B. A.; Legius, E.; Riant, F.; De Jonghe, P.; Li, Y.; Sekine, T.; Igarashi, T.; Fujimoto, I.; Mikoshiba, K.; Shimadzu, M.; Shiohara, M.; Braverman, N.; Al-Gazali, L.; Fujita, T.; Seki, G. (23 August 2010). "Defective membrane expression of the Na+-HCO3- cotransporter NBCe1 is associated with familial migraine". Proceedings of the National Academy of Sciences. 107 (36): 15963–15968. Bibcode:2010PNAS..10715963S. doi:10.1073/pnas.1008705107. PMC 2936614. PMID 20798035.

Arias-Rivas S, Rodríguez-Yañez M, Cortés J, Pardo-Parrado M, Aguiar P, Leira R, Castillo J, Blanco M (2012). "Familial hemiplegic migraine with prolonged global aura: follow-up findings of subtraction ictal SPECT co-registered to MRI (SISCOM)". Cephalalgia. 32 (13): 1013–1014. doi:10.1177/0333102412457093. PMID 22933508. S2CID 18838384.

Lykke Thomsen L, Kirchmann Eriksen M, Faerch Romer S, Andersen I, Ostergaard E, Keiding N, Olesen J, Russell M (2002). "An epidemiological survey of hemiplegic migraine". Cephalalgia. 22 (5): 361–75. doi:10.1046/j.1468-2982.2002.00371.x. PMID 12110112. S2CID 22040734.

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Ducros, A (Apr 22, 2013). "[Genetics of migraine.]". Revue Neurologique. 169 (5): 360–71. doi:10.1016/j.neurol.2012.11.010. PMID 23618705.

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Familial hemiplegic migraine (English Wikipedia)