유전성 간헐성 어지럼증 = Hereditary Episodic Vertigo

참고문헌 (Reference)

1 Farmer TW, "Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations" 8 : 471-480, 1963

2 Strupp M, "Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine" 62 : 1623-1625, 2004

3 Ducros A, "The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel" 345 : 17-24, 2001

4 Jen JC, "Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia" 65 : 565-568, 1998

5 Jen JC, "Primary episodic ataxias: diagnosis, pathogenesis and treatment" 130 : 2484-2493, 2007

6 Cao YQ, "Presynaptic Ca2+ channels compete for channel type-preferring slots in altered neurotransmission arising from Ca2+ channelopathy" 43 : 387-400, 2004

7 Imbrici P, "Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A" 65 : 944-946, 2005

8 Browne DL, "Identification of two new KCNA1 mutations in episodic ataxia/myokymia families" 4 : 1671-1672, 1995

9 Denier C, "High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2" 52 : 1816-1821, 1999

10 Chen H, "Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia" 8 : 131-135, 2007

11 Brunt ER, "Familial paroxysmal kinesigenic ataxia and continuous myokymia" 113 : 1361-1382, 1990

12 Baloh RW, "Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p" 41 : 8-16, 1997

13 Browne DL, "Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene" 8 : 136-140, 1994

14 Baloh RW, "Episodic ataxia type 2 and spinocerebellar ataxia type 6. in: Handbook of ataxia disorders" Marcel Dekker, Inc 447-467, 2000

15 Adelman JP, "Episodic ataxia results from voltage-dependent potassium channels with altered functions" 15 : 1449-1454, 1995

16 Cao YQ, "Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission" 2590-2595, 2005

17 Jen JC, "Clinical spectrum of episodic ataxia type 2" 62 : 17-22, 2004

18 von Brevern M, "Acute migrainous vertigo: clinical and oculographic findings" 128 : 365-374, 2005

19 Jen JC, "A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia" 53 : 34-37, 1999

20 Cader MZ, "A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia" 65 : 156-158, 2005