INT91821

Context Info Confidence 0.48 First Reported 2000 Last Reported 2010 Negated 2 Speculated 0 Reported most in Abstract Documents 16 Total Number 16 Disease Relevance 13.10 Pain Relevance 6.37

cell death (Cacna1a) plasma membrane (Cacna1a) nucleus (Cacna1a) neurological system process (Cacna1a) transmembrane transport (Cacna1a) cytoplasm (Cacna1a)

Anatomy Link Frequency head 1 Cacna1a (Rattus norvegicus) Cacna1a - R1668W (1)

Pain Link Frequency Relevance Heat Migraine 79 100.00 Calcium channel 3 97.88 adenocard 2 93.04 headache 3 71.96

Disease Link Frequency Relevance Heat Migraine With Aura 65 100.00 Disease 7 100.00 Ataxia 27 99.98 Epilepsy 10 99.98 Headache 32 99.72 Pressure And Volume Under Development 1 99.28 Coma 3 98.48 Head Trauma 1 97.64 Spinocerebellar Ataxia Type 2 4 97.16 Frailty 4 95.64

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Genetic linkage to CACNA1A was excluded.

CACNA1A Binding (linkage) of

1) Confidence 0.48 Published 2004 Journal Neurology Section Abstract Doc Link 15277634 Disease Relevance 0.78 Pain Relevance 0.17

Our report highlights profound phenotypic variability that can be associated with CACNA1A mutations and adds important therapeutic considerations.

CACNA1A Binding (associated) of

2) Confidence 0.48 Published 2008 Journal Eur. Neurol. Section Abstract Doc Link 18437043 Disease Relevance 0.70 Pain Relevance 0.09

We identified no linkage to CACNA1A and ATP1A2 loci on chromosome 19 or 1, respectively.

CACNA1A Neg (no) Binding (linkage) of

3) Confidence 0.47 Published 2006 Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. Section Abstract Doc Link 16508934 Disease Relevance 0.87 Pain Relevance 0.44

This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.

CACNA1A Binding (associated) of

4) Confidence 0.47 Published 2000 Journal Neurology Section Abstract Doc Link 11061267 Disease Relevance 1.13 Pain Relevance 0.24

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.

CACNA1A (R1668W) Binding (presented) of

5) Confidence 0.37 Published 2008 Journal Eur. Neurol. Section Abstract Doc Link 18437043 Disease Relevance 0.63 Pain Relevance 0.08

Is the CACNA1A gene involved in familial migraine with aura?

CACNA1A Binding (migraine) of associated with migraine

6) Confidence 0.37 Published 2002 Journal Neurol. Sci. Section Title Doc Link 12111613 Disease Relevance 0.97 Pain Relevance 0.69

The families were first genotyped to check for linkage to the chromosome 19p locus of CACNA1A.

CACNA1A Binding (linkage) of

7) Confidence 0.36 Published 2004 Journal Neurology Section Abstract Doc Link 14718690 Disease Relevance 0.26 Pain Relevance 0

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.

CACNA1A Binding (associated) of associated with migraine

8) Confidence 0.35 Published 2009 Journal Headache Section Abstract Doc Link 19486177 Disease Relevance 0.50 Pain Relevance 0.34

There has also been a report of a CACNA1A mutation being associated with MA in a patient from a family with predominant FHM.

CACNA1A Binding (associated) of associated with migraine

9) Confidence 0.34 Published 2001 Journal Am. J. Med. Genet. Section Abstract Doc Link 11803518 Disease Relevance 1.44 Pain Relevance 1.20

Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation.

CACNA1A gene Binding (associated) of associated with epilepsy and migraine

10) Confidence 0.29 Published 2010 Journal Epilepsy Behav Section Title Doc Link 20071244 Disease Relevance 1.82 Pain Relevance 0.89

This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma.

CACNA1A Binding (associated) of in head associated with pressure and volume under development, head trauma and coma

11) Confidence 0.27 Published 2009 Journal Cephalalgia Section Abstract Doc Link 19438926 Disease Relevance 0.47 Pain Relevance 0.18

This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes.

CACNA1A Binding (associated) of associated with disease

12) Confidence 0.27 Published 2006 Journal Arq Neuropsiquiatr Section Abstract Doc Link 17119788 Disease Relevance 0.65 Pain Relevance 0.55

Transmission disequilibrium testing provided no evidence for linkage of MA to CACNA1A.

CACNA1A Neg (no) Binding (linkage) of associated with migraine with aura

13) Confidence 0.27 Published 2002 Journal Neurology Section Abstract Doc Link 12370474 Disease Relevance 0.64 Pain Relevance 0.26

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.

CACNA1A Binding (associated) of associated with migraine and disease

14) Confidence 0.07 Published 2007 Journal Clin. Genet. Section Abstract Doc Link 17877748 Disease Relevance 0.86 Pain Relevance 0.78

Genetic studies have established an association with mutations in the CACNA1A gene.

CACNA1A gene Binding (association) of

15) Confidence 0.03 Published 2005 Journal Neurology Section Abstract Doc Link 15728280 Disease Relevance 0.17 Pain Relevance 0.17

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

CACNA1A mutation Binding (associated) of associated with ataxia

16) Confidence 0.02 Published 2007 Journal J. Neurol. Sci. Section Title Doc Link 17292920 Disease Relevance 1.22 Pain Relevance 0.28

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