Aster Harder

WHOLE EXOME SEQUENCING OF HEMIPLEGIC MIGRAINE PATIENTS SHOWS AN INCREASED BURDEN OF MISSENSE VARIANTS IN CACNA1H AND CACNA1I GENES 205 9 References 1. Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition. Cephalalgia. 2018;38(1):1-211. 2. Ducros A, Denier C, Joutel A, et al.The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001;345(1):17-24. 3. Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol. 2011;10(5):457-70. 4. Pelzer N, Haan J, Stam AH, et al. Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation. Neurology. 2018;90(7):e575-e582. 5. Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87(3):543-52. 6. Dichgans M, Freilinger T, Eckstein G, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005;366(9483):371-377. 7. De Fusco M, Marconi R, Silvestri L, et al. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003;33(2):192-196. 8. Hiekkala ME, Vuola P, Artto V, et al. The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families. Cephalalgia. 2018;38(12):1849-1863. 9. Sutherland HG, Maksemous N, Albury CL, et al. Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants. Cells. 2020;9(11) :2368. 10. Riant F, Roos C, Roubertie A, et al. Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. Neurology. 2022;98(1):e51-e61. 11. Valente P, Castroflorio E, Rossi P, et al. PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery. Cell Rep. 2016;15(1):117-131. 12. Pelzer N, de Vries B, Kamphorst JT, et al. PRRT2 and hemiplegic migraine: a complex association. Neurology. 2014;83(3):288-290. 13. Gormley P, Kurki M, Kurki MI, et al. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron. 2018;98(4):743-753.e4. 14. Wray NR, Goddard ME. Multi-locus models of genetic risk of disease. Genome Med. 2010;2(2):10. 15. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet. 2012;44(12):13261329. 16. Rivas MA, Beaudoin M, Gardet A, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011;43(11):1066-1073. 17. Panoutsopoulou K, Tachmazidou I, Zeggini E. In search of low-frequency and rare variants affecting complex traits. Hum Mol Genet. 2013;22(R1):R16-21. 18. Ferrari MDP, Klever RRM, Terwindt GMMD, Ayata CMD, van den Maagdenberg AMJMP. Migraine pathophysiology: lessons from mouse models and human genetics. Lancet Neurology, The. 2015;14(1):65-80. 19. Westenbroek RE, Sakurai T, Elliott EM, et al. Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci. 1995;15(10):6403-6418.

RkJQdWJsaXNoZXIy MTk4NDMw