A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
about
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 cellsR583Q CACNA1A variant in SHM1 and ataxia: case report and literature updateDelayed 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 migraineA novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraineA G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signsDominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice.Molecular genetics of migraine headaches: a review.The molecular biology of the autosomal-dominant cerebellar ataxias.Acetazolamide acts on neuromuscular transmission abnormalities found in some migraineurs.The inherited episodic ataxias: how well do we understand the disease mechanisms?Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismThe neuronal channelopathies.Genetics of migraine: possible links to neurophysiological abnormalities.Molecular genetics of migraine.Pseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.Meta-Analysis of Public Microarray Datasets Reveals Voltage-Gated Calcium Gene Signatures in Clinical Cancer Patients.Sporadic hemiplegic migraine.Toward a molecular genetic classification of familial hemiplegic migraine.The molecular genetics of migraine.Pathophysiological role of omega pore current in channelopathiesMigraine genetics: an update.Practical considerations for carbamazepine use in bipolar disorder.Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2Women and epilepsy: review and practical recommendations.Episodic ataxia type 1: a neuronal potassium channelopathy.Neuro-ophthalmologic manifestations of primary headache disorders.Central mechanism of action of antimigraine prophylactic drugs.Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment.Eye movement disorders are an early manifestation of CACNA1A mutations in children.Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.The CACNA1A and ATP1A2 genes are not involved in dominantly inherited migraine with aura.Spreading depression: from serendipity to targeted therapy in migraine prophylaxis.
P2860
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P2860
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին 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
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@ast
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@en
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@nl
type
label
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@ast
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@en
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@nl
prefLabel
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@ast
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@en
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@nl
P2093
P356
P1433
P1476
A new CACNA1A gene mutation in ...... hemiplegic migraine and ataxia
@en
P2093
F Giannini
G C Guazzi
N Battistini
P G Righetti
S Battistini
S Stenirri
P356
10.1212/WNL.53.1.38
P407
P577
1999-07-01T00:00:00Z