Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Familial Hemiplegic Migraine (FHM) Gene Panel

Dr. med. Imma Rost, Dr. rer. nat. Karin Mayer

Familial hemiplegic migraine (FHM) is defined as a rare (prevalence approx. 1:1,000) autosomal dominant form of migraine with aura and in addition a reversible hemiparesis in at least two first-degree relatives. It belongs to the ion channel diseases of the CNS. Clinically, pathophysiologically and genetically, there are similarities with epilepsy and other neurological disorders. To date, three causative genes are known: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Since the forms differ little from each other, the three causative genes can be analyzed simultaneously by NGS.


Method

All coding exons and their flanking intronic sequences from the genes in the familial hemiplegic migraine gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).