Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
about
Manipulating neuronal circuits with endogenous and recombinant cell-surface tethered modulatorsFamilial hemiplegic migraine Ca(v)2.1 channel mutation R192Q enhances ATP-gated P2X3 receptor activity of mouse sensory ganglion neurons mediating trigeminal painAssociation analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility.Spinocerebellar ataxia type 6 mutation alters P-type calcium channel functionProgress in genetic studies of pain and analgesiaMolecular characterization of a neuronal low-voltage-activated T-type calcium channelEpisodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channelComplete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels.Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmissionPharmacotherapy of vestibular and ocular motor disorders, including nystagmusFunctional analysis of missense variants in the TRESK (KCNK18) K channelDefective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraineGenetics of migraine in the age of genome-wide association studiesPain as a channelopathyThe cerebellum and migraineCurrent treatment of vestibular, ocular motor disorders and nystagmusMechanisms of migraine aura revealed by functional MRI in human visual cortexA high-density association screen of 155 ion transport genes for involvement with common migraineGenetics of migraine and pharmacogenomics: some considerationsThe 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 cellsA new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic studyProgressive ataxia due to a missense mutation in a calcium-channel geneFamilial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityJapanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of DiseaseThe Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation MedicineThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceInsights into the Pathology of the α2-Na(+)/K(+)-ATPase in Neurological Disorders; Lessons from Animal Models.Migraine in the era of precision medicineVestibular migraine: the most frequent entity of episodic vertigoUpdate on the pharmacotherapy of cerebellar and central vestibular disordersPrecision medicine in spinocerebellar ataxias: treatment based on common mechanisms of diseaseGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCCHomeostatic plasticity at the Drosophila neuromuscular junction
P2860
Q21129095-0131AED0-A1B6-46D4-BE03-C987161E7DE4Q21203939-0BDA8F8F-16D8-49E2-9634-CDC2E8F20BA3Q21261457-8EC49B91-6291-4914-8717-D935E5F41D9FQ22253850-4A5795E0-48D2-491A-AD10-6F9CF797AFF6Q24289028-8A45CBC2-3D2C-47D2-8164-14531FBF966FQ24316054-02F359B2-72B9-4708-A933-5D9E5E772750Q24533155-0D2D178C-6E93-40BE-B89D-A903538AF567Q24536238-7C0C2961-CE17-43EC-9C4A-3E5D002672EBQ24537292-ABB0FDDB-F2AD-4869-8002-CAEB326656A1Q24538702-D2037288-9735-41BB-A373-0BD044D7AD72Q24540027-1BEE04E9-334D-4999-8F2F-9AAECC2F3138Q24556684-7E14F9F7-8A4F-4946-AEE6-8E9DD1459FAFQ24595123-7FA4C452-FB09-4A09-9159-C4F2DEB0910DQ24602232-7F3DA4D3-7C5E-4229-9251-DAE309AAA67BQ24613358-21ED03AC-FD9C-4873-85E8-54117367BDB4Q24613478-1D309981-CCC0-4C37-A00B-4DE12E277EC9Q24622323-E688A031-245E-44BA-99F6-2A9B2BF3CDDAQ24628942-BBB3FEFE-22CB-4844-B7E4-BEFF0EEE0CDDQ24628964-630F67E3-E065-41AF-BFE6-E5013F53C6F1Q24635174-FEDDB589-5FE0-4B07-81D8-FE443D3ED38BQ24653482-3581C02C-1D50-442F-97CB-168A85A31849Q24654656-040D3B34-0906-42DE-8365-6CA5DB006761Q24657270-5D3F8E20-B2D2-4609-8D49-070AD202BC12Q24672784-5D10EACE-3617-4CAD-84DA-7BFC52AD3A5FQ24677069-5CED1460-E5D7-436B-AF15-F2EC603A4455Q24678116-0C495EED-A500-4F07-8FF7-B59B417AD2BFQ24678468-9AA9089F-7D1D-4F9C-9ABA-220C1AE98ABEQ24678584-E14BB1D5-0669-4E62-84EB-85A34ABC37CDQ26738318-469AA140-0092-4556-B6B2-AA7B0AACCCB6Q26744657-7F2147C6-3DDF-494A-8691-41E635F1BB71Q26745558-AD1E9639-2824-4C87-9C95-21070A30AA05Q26747517-EA03BF18-D6D9-4E86-AEA3-CAFFC199E71DQ26748947-671D93A6-DF48-4BAE-A711-0A24299DDA9EQ26753119-4EDB87C3-5E57-416E-9D3B-8FAD69EE817EQ26753139-E9AC71C6-9F1E-493E-8445-1ADC7ED2B6D6Q26764958-6C9B262E-02A9-49A4-9F91-0A093D66B1ECQ26777559-7C0E17E4-2796-4F91-860A-0FAC75F2E49AQ26783154-F9116D02-6901-4B2D-ACFE-295F337BD5C4Q26786113-FF85B403-5295-4459-847C-D77B7B2ABD60Q26829672-3B7EC3F9-0EB8-463B-84A8-5AD578C63F8C
P2860
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@ast
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@en
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@nl
type
label
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@ast
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@en
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@nl
prefLabel
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@ast
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@en
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@nl
P2093
P3181
P1433
P1476
Familial hemiplegic migraine a ...... the Ca2+ channel gene CACNL1A4
@en
P2093
D E Bulman
G J van Ommen
G M Terwindt
H W Mohrenweiser
J E Lamerdin
M D Ferrari
M H Hofker
M N Vergouwe
P J Oefner
P304
P3181
P356
10.1016/S0092-8674(00)81373-2
P407
P577
1996-11-01T00:00:00Z