Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
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Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2The cerebellum and migraineThe 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'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-VGCCA Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ InfluxThree new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kineticsDelayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraineAn epidemiological survey of hemiplegic migraineEnhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice.Neurological channelopathies: diagnosis and therapy in the new millennium.Molecular genetics of migraine headaches: a review.Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.Genetic biomarkers for migraine.Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.Implications of clinical subtypes of migraine with aura.CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.Sporadic hemiplegic migraine is an aetiologically heterogeneous disorder.entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.Sporadic hemiplegic migraine.Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing.Responsivity of Periaqueductal Gray Connectivity Is Related to Headache Frequency in Episodic Migraine.Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Familial hemiplegic migraine: follow-up findings of diffusion-weighted magnetic resonance imaging (MRI), perfusion-MRI and [99mTc] HMPAO-SPECT in a patient with prolonged hemiplegic aura.Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine PatientsFamilial Hemiplegic Migraine Type 1 Shows no Hypersensitivity to Nitric OxideHemiplegic Migraine: Clinical Features, Links with Basilar-type Migraine, Current and Future Treatment
P2860
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P2860
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին 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
Recurrence of the T666M calciu ...... progressive cerebellar ataxia
@nl
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@ast
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@en
type
label
Recurrence of the T666M calciu ...... progressive cerebellar ataxia
@nl
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@ast
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@en
prefLabel
Recurrence of the T666M calciu ...... progressive cerebellar ataxia
@nl
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@ast
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@en
P2093
P2860
P356
P1476
Recurrence of the T666M calciu ...... progressive cerebellar ataxia.
@en
P2093
Barthez MA
Bousser MG
Guerouaou D
P2860
P356
10.1086/302192
P407
P577
1999-01-01T00:00:00Z