Migraine familial hemiplegic

Mutation in the neuronal Cav2.1 channel is associated with familial hemiplegic migraine and episodic ataxia in humans. Deletion of the Cav2.1, Cav2.2 and Cav2.3 gene is compatible with life accompanied by a variety of central and peripheral defects. 

Ophoff, R.A., et al., "Familial Hemiplegic Migraine and Episodic Ataxia type-2 are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4," Cell, 87, 543-552 (1996). 

Table 1. CACNA1A (Ca 2.1, a 1A) Functional results for mutations associated with FHM = familial hemiplegic migraine, EA2 = episodic ataxia type 2, SCA6 = spinocerebellar ataxia type 6, PCA = progressive cerebellar ataxia (although addition mutations have been associated with these disorders, only those with reported functional data are listed)...

Figure 1. Mutations in the human Cnv 2.1 (P/Q-type) voltage-gated calcium channel associated with Familial Hemiplegic Migraine (FHM) and Spinocerebellar Ataxia Type-6 (SCA6)...

Adams PJ, Garcia E, Mulatz K, Spacey SD, Snutch TP (2006) Familial Hemiplegic Migraine Mutation K1336E Differentially Affects Calcium-Dependent Facilitation Of P/Q-Type Calcium Channel Splice Variants. FENS Forum Abstracts vol. 3 A084.082. 

Barrett CF, Cao YQ, Tsien RW (2005) Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. J Biol Chem 280 24064-24071. 

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33 192-196. 

Hans M, Luvisetto S, Williams ME, Spagnolo M, Urrutia A, Tottene A, Brust PF, Johnson EC, Harpold MM, Stauderman KA, Pietrobon D (1999) Functional consequences of mutations in the human alphalA calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 19 1610-1619. 

Kraus RL, Sinnegger MJ, Glossmann H, Hering S, Striessnig J (1998) Familial hemiplegic migraine mutations change alphalA Ca2+ channel kinetics. J Biol Chem 273 5586-5590. 

Melliti K, Grabner M, Seabrook GR (2003) The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells. J Physiol 546 337-347. 

Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87 543-552. 

Thomsen LL, Eriksen MK, Roemer SF, Andersen I, Olesen J, Russell MB (2002) A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria. Brain 125 1379-1391. 

Tottene A, Pivotto F, Fellin T, Cesetti T, van den Maagdenberg AM, Pietrobon D (2005a) Specific kinetic alterations of human CaV 2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma. J Biol Chem 280 17678-17686. 

Ducros A, Denier C, Joutel A et al (2001) The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 345 17-24 Evans RW, Linder SL (2002) Management of basilar migraine. Headache 42 383-384... 

It has been suggested that triptans should not be used in patients with basilar or familial hemiplegic migraine, although some successes have been reported without adverse effects (24). 

Ducros A, Joutel A, Vanedi K et al 1997 Mapping of a second locus for familial hemiplegic migraine to lq21 -q23 and evidence of further heterogeneity. Ann Neurol 42 885-890... 

Joutel A, Bousser MG, Biousse V et al 1993 A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 5 40-45... 

Ophoff RA, Terwindt GM, Vergouwe MN et al 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca channel gene CACNLl A4. Cell 87 543—552... 

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