INT91821
From wiki-pain
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Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
Genetic linkage to CACNA1A was excluded. | |||||||||||||||
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Our report highlights profound phenotypic variability that can be associated with CACNA1A mutations and adds important therapeutic considerations. | |||||||||||||||
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We identified no linkage to CACNA1A and ATP1A2 loci on chromosome 19 or 1, respectively. | |||||||||||||||
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This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations. | |||||||||||||||
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We describe a family with an R1668W mutation in the CACNA1A gene who presented with a broader clinical spectrum and more variable features than previously reported. | |||||||||||||||
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Is the CACNA1A gene involved in familial migraine with aura? | |||||||||||||||
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The families were first genotyped to check for linkage to the chromosome 19p locus of CACNA1A. | |||||||||||||||
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We hypothesize that the CACNA1A gene mutation may contribute to both typical EA2 and typical basilar-type migraine, extending the spectrum of clinical manifestations associated with CACNA1A mutations. | |||||||||||||||
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There has also been a report of a CACNA1A mutation being associated with MA in a patient from a family with predominant FHM. | |||||||||||||||
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Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation. | |||||||||||||||
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This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma. | |||||||||||||||
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This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. | |||||||||||||||
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Transmission disequilibrium testing provided no evidence for linkage of MA to CACNA1A. | |||||||||||||||
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Here, we report the genetic analysis of four families and one sporadic case with hemiplegic migraine (HM) in whom we searched for mutations in the three genes associated with the disease CACNA1A, ATP1A2 and SCN1A. | |||||||||||||||
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Genetic studies have established an association with mutations in the CACNA1A gene. | |||||||||||||||
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Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. | |||||||||||||||
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General Comments
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