Episodic ataxia type

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 2. Mutations in the human Cav2.1 (P/Q-type) voltage-gated calcium channel associated with Episodic Ataxia Type-2 (EA2) mutations in the Cav2.1 mouse homolog associated with tottering (tg), leaner (tgla), rolling nagoya (tgrol) and rocker phenotypes...

Jen J, Kim GW, Baloh RW (2004) Clinical spectrum of episodic ataxia type 2. Neurology 62 17-22. 

Jeng CJ, Chen YT, Chen YW, Tang CY (2006) Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. Am J Physiol Cell Physiol 290 0209-1220. 

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. 

Cusimano A, D Adamo MC, Pessia M (2004) An episodic ataxia type-1 mutation in the SI segment sensitizes the hKvl.l potassium channel to extracellular Zn. FEBS Lett 576 237-244... 

Episodic ataxia type 2 (EA2) is an autosomal dominant disorder with episodes of markedly impaired truncal ataxia lasting hours to days with interictal eye movement abnormalities. Exertion and stress commonly precipitate the episodes. Often, the episodes of ataxia respond to acetazolamide (Ophoff et al 1996). In some individuals, there may be a gradual baseline ataxia with evidence of cerebellar atrophy. Affected patients may also have migraine some even complain of basilar migraine (Ophoff et al 1996). 

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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