New CACNA1A deletions are associated to migraine phenotypes

The Journal of Headache and Pain
Gaetano Salvatore GriecoC Cereda

Abstract

Familial hemiplegic migraine type 1 (FHM1) is a form of migraine with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity is expected. Here have been described clinical and molecular features in patients suffering from migraine with Aura (MA), without (MO) and hemiplegic migraine attacks. Next Generation Sequencing by TruSeq Custom Amplicon for CACNA1A and ATP1A2 gene has been performed. All genetic variants have been confirmed by Sanger sequencing and all samples were also analyzed with MLPA assay for ATP1A2-CACNA1A genes to detect duplication or deletion. All MLPA data were verified by Real Time PCR. Sequencing analysis showed 3 point mutations, two novel variants and one already described in literature. Moreover, MLPA analysis showed 3 deletions in 9 sporadic hemiplegic migraine (18%), in 3 patients with non-hemiplegic migraine (4.1%) and in 3 patients affected by episodic ataxia (20%). Two sporadic patients showed a deletion in exons 41-43, while the rest of HM patients (5) showed a deletion in the terminal part of the CACNA1A gene. About episodic ataxia, we have identified deletions in exon 12-15 and in exon 47. Finally, in migraine patients, we have found different...Continue Reading

References

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Citations

May 30, 2020·Translational Psychiatry·Michail S KukharskyTatyana A Shelkovnikova
Mar 3, 2020·Frontiers in Molecular Neuroscience·Sidharth TyagiRoger A Bannister
May 21, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Vincenzo Di StefanoPasquale Parisi
Jun 23, 2019·The Journal of Headache and Pain·Heidi G SutherlandLyn R Griffiths
Apr 16, 2021·Radiology Case Reports·Chang Y HoLaurence E Walsh
Jul 11, 2021·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Johra KhanJ Francis Borgio

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Methods Mentioned

BETA
PCR

Software Mentioned

SIFT
MutationTaster
Polyphen
Gene Mapper

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