TY - JOUR
T1 - Is the CACNA1A gene involved in familial migraine with aura?
AU - Brugnoni, R.
AU - Leone, M.
AU - Rigamonti, A.
AU - Moranduzzo, E.
AU - Cornelio, F.
AU - Mantegazza, R.
AU - Bussone, G.
PY - 2002
Y1 - 2002
N2 - The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the suggestion that this gene might be involved in familial migraine with aura (FMA). We investigated whether the mutations in FHM are present in FMA patients, analyzing genomic DNA by PCR, single stranded conformation polymorphism, sequencing and restriction enzyme. No mutations were found. A known polymorphism (5682-14C>T) was found in exon 36. These findings suggest that the mutations found in FHM and the other known mutations of the CACNA1A gene are not the genetic basis of FMA. Genetic alterations in FMA patients may be localized on chromosome 19 but not in the CACNA1A exons we investigated.
AB - The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the suggestion that this gene might be involved in familial migraine with aura (FMA). We investigated whether the mutations in FHM are present in FMA patients, analyzing genomic DNA by PCR, single stranded conformation polymorphism, sequencing and restriction enzyme. No mutations were found. A known polymorphism (5682-14C>T) was found in exon 36. These findings suggest that the mutations found in FHM and the other known mutations of the CACNA1A gene are not the genetic basis of FMA. Genetic alterations in FMA patients may be localized on chromosome 19 but not in the CACNA1A exons we investigated.
KW - CACNA1A gene
KW - Familial hemiplegic migraine
KW - Migraine with aura
KW - Mutation
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U2 - 10.1007/s100720200015
DO - 10.1007/s100720200015
M3 - Article
C2 - 12111613
AN - SCOPUS:0036271977
VL - 23
SP - 1
EP - 5
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 1
ER -