New CACNA1A deletions are associated to migraine phenotypes.

ABSTRACT:

Background

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.

Results

Sequencing analysis showed 3 point mutations, two novel variants and one already described in lite

SUBMITTER: Grieco GS 

PROVIDER: S-EPMC6117225 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature