scholarly article | Q13442814 |
P50 | author | José M Fernández-Fernández | Q37375781 |
Miguel A Valverde | Q37375802 | ||
Bru Cormand | Q37652264 | ||
Claudio Toma | Q42881633 | ||
Selma A Serra | Q48004028 | ||
Marta Vila-Pueyo | Q57394339 | ||
D Grinberg | Q71585921 | ||
P2093 | author name string | Roser Pons | |
Alfons Macaya | |||
María-Jesús Sobrido | |||
Cèlia Sintas | |||
Oriel Carreño | |||
Roser Corominas | |||
Gemma G Gené | |||
Miguel Llaneza | |||
Noèlia Fernández-Castillo | |||
P2860 | cites work | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 |
Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches | Q22337395 | ||
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2 | Q24293004 | ||
Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons | Q24538702 | ||
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia | Q24540027 | ||
Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension | Q24609918 | ||
Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine | Q24613358 | ||
Multiple sequence alignment with the Clustal series of programs | Q24672842 | ||
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood | Q24674997 | ||
Calcium channels and migraine | Q26859229 | ||
A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM | Q28138735 | ||
Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics | Q28139662 | ||
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia | Q28139793 | ||
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family | Q28198668 | ||
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine | Q28202137 | ||
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine | Q28203682 | ||
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions | Q28204791 | ||
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel | Q28204946 | ||
Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma | Q28237739 | ||
A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression | Q28248603 | ||
A new locus for hemiplegic migraine maps to chromosome 1q31 | Q28254832 | ||
Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics | Q28263620 | ||
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine | Q28264653 | ||
ATP1A2 mutations in 11 families with familial hemiplegic migraine | Q28266414 | ||
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 | Q28295213 | ||
Entrance port for Na(+) and K(+) ions on Na(+),K(+)-ATPase in the cytoplasmic loop between trans-membrane segments M6 and M7 of the alpha subunit. Proximity Of the cytoplasmic segment of the beta subunit | Q28368365 | ||
The International Classification of Headache Disorders: 2nd edition | Q29547231 | ||
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. | Q30528873 | ||
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine | Q30528874 | ||
Familial hemiplegic migraine | Q33280531 | ||
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation | Q33466646 | ||
A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis. | Q33667575 | ||
Structure and mechanism of Na,K-ATPase: functional sites and their interactions | Q34170045 | ||
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures | Q34212724 | ||
Contribution of calcium-dependent facilitation to synaptic plasticity revealed by migraine mutations in the P/Q-type calcium channel | Q34276473 | ||
Molecular genetics of migraine | Q34981965 | ||
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2 | Q35204801 | ||
Two atomic constraints unambiguously position the S4 segment relative to S1 and S2 segments in the closed state of Shaker K channel | Q35808791 | ||
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. | Q35906678 | ||
Prolonged hemiplegic episodes in children due to mutations in ATP1A2. | Q36227369 | ||
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine | Q36439205 | ||
How does voltage open an ion channel? | Q36480474 | ||
Episodic ataxia type 2. | Q36774729 | ||
Migraine: a complex genetic disorder | Q36825299 | ||
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. | Q37427159 | ||
The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation | Q37475732 | ||
The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature | Q37480021 | ||
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. | Q37686824 | ||
A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline. | Q37805054 | ||
Dravet syndrome history | Q37866828 | ||
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 inhibition | Q39888161 | ||
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia | Q39922678 | ||
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2 | Q39947054 | ||
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil | Q40339838 | ||
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation | Q43195369 | ||
Large CACNA1A deletion in a family with episodic ataxia type 2. | Q43406275 | ||
Intrinsic brain activity triggers trigeminal meningeal afferents in a migraine model | Q43873034 | ||
Identification of CACNA1A large deletions in four patients with episodic ataxia | Q44049610 | ||
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine | Q44447061 | ||
Site-directed mutagenesis of amino acids in the cytoplasmic loop 6/7 of Na,K-ATPase | Q44451744 | ||
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes | Q44984439 | ||
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice | Q46088814 | ||
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation | Q46722961 | ||
High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice | Q48291984 | ||
The genetic spectrum of a population-based sample of familial hemiplegic migraine | Q48349173 | ||
The SCN1A variant database: a novel research and diagnostic tool. | Q48669854 | ||
Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation | Q48809798 | ||
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 | ||
Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation. | Q51847506 | ||
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 ataxia | Q57557338 | ||
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine | Q57811687 | ||
CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood | Q57956175 | ||
Minor Head Trauma–Induced Sporadic Hemiplegic Migraine Coma | Q61982612 | ||
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine | Q80140132 | ||
Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred | Q83203693 | ||
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification | Q84275975 | ||
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine | Q84667839 | ||
PRRT2 mutations cause hemiplegic migraine | Q85217137 | ||
Genetics: expanding the spectrum of neurological disorders associated with PRRT2 mutations | Q85486005 | ||
P433 | issue | 4 | |
P921 | main subject | migraine | Q133823 |
P304 | page(s) | 206-222 | |
P577 | publication date | 2013-07-02 | |
P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
P1476 | title | Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies | |
P478 | volume | 1 |
Q28118912 | A 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 |
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Q31160887 | Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management |
Q33773810 | De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report. |
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