| 1 | CACNA1A, MHP1
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| Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions
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| Duque KR, Marsili L, Sturchio A, Mahajan A, Merola A, Espay AJ, Kauffman MA.
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| Cerebellum Feb;20(1):134-139. doi: 10.1007/s12311-020-01185-9. Epub 2020 Sep 5. 2021
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| 2 | CACNA1A, MHP1
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| Ultrastructural changes in microvessels in familial hemiplegic migraine with CACNA1A mutation
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| Dziewulska D, Kierdaszuk B.
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| Clin Neuropathol. Nov/Dec;37(6):283-287. doi: 10.5414/NP300619. 2018
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| 3 | CACNA1A, MHP1
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| CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
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| Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM.
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| Clin Genet 74(5):481-5. Epub 2008 Apr 8.
2008
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| 4 | MHP1, CACNA1A
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| Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission.
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| Cao YQ, Tsien RW.
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| Proc Natl Acad Sci U S A 102(7):2590-5. Epub 2005 Feb 7. 2005
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| 5 | CACNA1A, EA2, MHP1
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| Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
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| Mullner C, Broos LA, van den Maagdenberg AM, Striessnig J.
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| J Biol Chem 279(50):51844-50. Epub 2004 Sep 23. 2004
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| 6 | CACNA1A, MHP1
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| Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.
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| Giffin NJ, Benton S, Goadsby PJ.
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| Dev Med Child Neurol 44(7):490-3. 2002
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| 7 | CACNA1A, EA2, MHP1, SCA6
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| Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
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| Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D.
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| Am J Hum Genet 68(3):759-64. 2001
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| 8 | CACNA1A, MHP1
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| Familial hemiplegic migraine: a ion channel disorder
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| Carrera P, Stenirri S, Ferrari M, Battistini S.
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| Brain Res Bull 56(3-4):239-41. Review. 2001
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| 9 | CACNA1A, MHP1
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| Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics.
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| Kraus RL, Sinnegger MJ, Koschak A, Glossmann H, Stenirri S, Carrera P, Striessnig J.
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| J Biol Chem 275(13):9239-43. 2000
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| 10 | CACNA1A, EA2, MHP1
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| Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
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| Ducros A, et al.
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| Am J Hum Genet 64 : 89-98. 1999
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| 11 | MHP1, CACNA1A
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| Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
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| Hans M, et al.
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| J Neurosci 19(5):1610-9. 1999
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| 12 | CACNA1A, MHP1
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| Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
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| Kraus RL, et al.
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| J Biol Chem 273 : 5586-5590. 1998
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| 13 | MHP1
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| Familial typical migraine: linkage to chromosome 19p13 and evidence for genetic heterogeneity.
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| Nyholt DR, Lea RA, Goadsby PJ, Brimage PJ, Griffiths LR.
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| Neurology 50(5):1428-32. 1998
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| 14 | CACNA1A, D19S1150, EA2, MHP1
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| Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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| Ophoff RA, et al.
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| Cell 87 : 543-552. 1996
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| 15 | MHP1, PRKCSH
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| A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2 : exclusion of PRKCSH as a candidate gene.
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| Ophoff RA, et al.
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| Eur J Hum Genet 4 : 321-328. 1996
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| 16 | MHP1
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| Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura.
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| May A, et al.
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| Hum Genet 96 : 604-608. 1995
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| 17 | CADASIL, MHP1
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| Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL).
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| Hutchinson M, et al.
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| Ann Neurol 38 : 817-824. 1995
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| 18 | MHP1, CACNA1A
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| Familial hemiplegic migraine. Localization of a responsible gene on chromosome 19.
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| Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J, et al.
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| Rev Neurol 150 : 340-345. 1994
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| 19 | CADASIL, MHP1
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| Familial migraine : exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p.
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| Hovatta I, et al.
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| Genomics 23 : 707-709. 1994
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| 20 | MHP1
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| Genetic heterogeneity of familial hemiplegic migraine.
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| Joutel A, et al.
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| Am J Hum Genet 55 : 1166-1172. 1994
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| 21 | MHP1
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| A gene for familial hemiplegic migraine maps to chromosome 19.
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| Joutel A, et al.
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| Nat Genet 5 : 40-45. 1993
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