Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

scientific article published on 02 July 2013

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/MGG3.24
P932PMC publication ID3865589
P698PubMed publication ID24498617
P5875ResearchGate publication ID260109238

P50authorJosé M Fernández-FernándezQ37375781
Miguel A ValverdeQ37375802
Bru CormandQ37652264
Claudio TomaQ42881633
Selma A SerraQ48004028
Marta Vila-PueyoQ57394339
D GrinbergQ71585921
P2093author name stringRoser Pons
Alfons Macaya
María-Jesús Sobrido
Cèlia Sintas
Oriel Carreño
Roser Corominas
Gemma G Gené
Miguel Llaneza
Noèlia Fernández-Castillo
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Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxiaQ24540027
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Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraineQ24613358
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Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kineticsQ28139662
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxiaQ28139793
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large familyQ28198668
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraineQ28202137
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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4Q28295213
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A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.Q33667575
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Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2Q35204801
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Prolonged hemiplegic episodes in children due to mutations in ATP1A2.Q36227369
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraineQ36439205
How does voltage open an ion channel?Q36480474
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Migraine: a complex genetic disorderQ36825299
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The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulationQ37475732
The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literatureQ37480021
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A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.Q37805054
Dravet syndrome historyQ37866828
The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibitionQ39888161
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic AtaxiaQ39922678
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2Q39947054
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamilQ40339838
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutationQ43195369
Large CACNA1A deletion in a family with episodic ataxia type 2.Q43406275
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Identification of CACNA1A large deletions in four patients with episodic ataxiaQ44049610
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraineQ44447061
Site-directed mutagenesis of amino acids in the cytoplasmic loop 6/7 of Na,K-ATPaseQ44451744
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromesQ44984439
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine miceQ46088814
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The genetic spectrum of a population-based sample of familial hemiplegic migraineQ48349173
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Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family.Q49021841
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).Q50650089
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Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.Q51893783
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.Q54474126
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxiaQ57557338
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraineQ57811687
CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of ChildhoodQ57956175
Minor Head Trauma–Induced Sporadic Hemiplegic Migraine ComaQ61982612
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraineQ80140132
Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindredQ83203693
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classificationQ84275975
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraineQ84667839
PRRT2 mutations cause hemiplegic migraineQ85217137
Genetics: expanding the spectrum of neurological disorders associated with PRRT2 mutationsQ85486005
P433issue4
P921main subjectmigraineQ133823
P304page(s)206-222
P577publication date2013-07-02
P1433published inMolecular genetics & genomic medicineQ27724709
P1476titleScreening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
P478volume1

Reverse relations

cites work (P2860)
Q28118912A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx
Q92942241Advances in genetics of migraine
Q31160887Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management
Q33773810De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.
Q91792625Epilepsy and migraine-Are they comorbidity?
Q38712800Eye movement disorders are an early manifestation of CACNA1A mutations in children
Q39167599Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.
Q38752492Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Q55363754Paroxysmal Hemicrania.
Q33621149The genetic relationship between epilepsy and hemiplegic migraine
Q41145371Voltage-gated calcium channels: Novel targets for cancer therapy
Q89963752Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies

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