High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
about
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kineticsMigrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family.Neurological channelopathies.Childhood absence epilepsy: genes, channels, neurons and networks.CaV2.1 channelopathies.Genetics of familial episodic vertigo and ataxia.The molecular biology of the autosomal-dominant cerebellar ataxias.A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.The first knockin mouse model of episodic ataxia type 2The inherited episodic ataxias: how well do we understand the disease mechanisms?The neuronal channelopathies.Epidemiology of vertigo, migraine and vestibular migraine.Brain sites of movement disorder: genetic and environmental agents in neurodevelopmental perturbations.Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?Migraine genetics: an update.Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.Voltage-gated calcium channels and idiopathic generalized epilepsies.Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.Episodic ataxia type 1: a neuronal potassium channelopathy.The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Mutational consequences of aberrant ion channels in neurological disorders.Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2.Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxiasThe prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.Identification of CACNA1A large deletions in four patients with episodic ataxia.Genetic Variants Associated with Episodic Ataxia in Korea.Nonconsensus intronic mutations cause episodic ataxia.Familial Episodic Ataxias and Related Ion Channel Disorders.Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.Vertigo as a symptom of migraine.Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
P2860
Q24536238-50F88EA9-C83B-4455-834A-F163FAF57D2DQ28139662-8577E5D9-556B-4BC2-B3F5-35054F48083EQ28254012-531B037A-2319-48E3-8E67-CF7E03C4A0A8Q30429315-BBF81D8A-4B67-4BEB-B95D-49E9A12039EAQ30482007-E1CCE3FA-8A8C-4892-8116-582439BE3FEAQ30493341-50B687CB-4B59-47C7-ACD3-85A79CC9992AQ30835420-0A896A8E-5DDE-4E48-A861-2C42A2915C7EQ33537218-3B40EADB-4BA0-4666-B4D8-2C2A5684720DQ33958658-CA950913-F4AC-4B83-9C2F-4A1370D80F3CQ33992649-986B49AF-1F9C-4F11-B898-3BD73FC18D11Q34145980-7E295B88-B028-49D0-B129-81B795BC9704Q34325294-DEC33C80-67AB-4EE5-AE0E-3B859027D2BDQ34326582-813E5153-0FB5-4955-875A-776A139F8FD3Q34649239-1777302D-2ACC-4F8A-B033-DB0C9363E0ACQ34947749-42CA22DD-A137-4C2C-B604-23E64CDA9359Q35165422-1095A692-1F77-4972-8C3D-F12D21A56473Q35204801-16E4FEB2-4D6B-48E1-A0F6-3D44C37BB63FQ35307681-7E8BDB09-BFBF-497F-BB3D-594D54AC2FB7Q35951750-9BD748A8-8E8C-413E-9CDC-00EFE542E3C7Q36133899-503B926A-EF01-49FD-97C1-F54B69F295C5Q36513343-A5ED8619-593D-470D-91B0-7F849E5B2876Q36525559-040EDE9D-3D38-493E-87F4-A8659FA9D2D7Q36618546-7B99832E-3C0E-431A-8F41-C06FCC366AB8Q36774725-A5F3FE48-395B-406C-9806-E585CE3AA6EEQ37243815-26EBB481-729D-4F0B-8F26-6AD006793877Q37619548-3D4398D9-3766-4332-A245-2510D51B2F3FQ38239544-73A6B6C0-944F-41CF-A0E8-BDCBBF2CAD0DQ38752492-751879CE-979F-4E58-AD8E-D602DC3F9B08Q40102308-4C1A9A21-171B-4A0A-AE8C-890CC29435F2Q40763673-CDF47546-57A4-424C-A33D-0543E5CE5779Q41960046-EC5FFB2C-70C8-4797-A356-F5456DF86BB3Q42415571-1A2E372B-8DDA-4DF5-9A63-70E247A6B7BBQ43600913-32B313F3-8AA5-4418-ACD8-3F6E42FB684CQ44049610-10E0D82C-0336-4B62-AE25-4253CA872AF7Q46136196-B28F64BD-61CB-447A-B9D3-8AD812DEC395Q46433410-1561D652-A066-4905-842C-5D1A92984EE5Q46450075-4266DB64-CB0B-49FA-B603-74838ED9EAB5Q48335039-054931E3-2706-46B1-B5ED-C2CAE3B51D55Q48393032-7E464689-F7AF-485B-BD52-54DFC6173728Q48945474-5E5B7CE1-486C-44FE-845A-3088998CEEB6
P2860
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@ast
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@en
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@nl
type
label
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@ast
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@en
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@nl
prefLabel
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@ast
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@en
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@nl
P2093
P356
P1433
P1476
High prevalence of CACNA1A tru ...... trum in episodic ataxia type 2
@en
P2093
A Vighetto
B Perrouty
E Tournier-Lasserve
G Castelnovo
P304
P356
10.1212/WNL.52.9.1816
P407
P50
P577
1999-06-10T00:00:00Z