{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T16:34:49Z","timestamp":1787934889276,"version":"build-2784847793"},"reference-count":108,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T00:00:00Z","timestamp":1683244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To utilize whole exome or genome sequencing and the scientific literature for identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine variant with paroxysmal nausea and vomiting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective chart review of 80 unrelated participants, ascertained by a quaternary care CVS specialist, was conducted. Genes associated with paroxysmal symptoms were identified querying the literature for genes associated with dominant cases of intermittent vomiting or both discomfort and disability; among which the raw genetic sequence was reviewed. \u201cQualifying\u201d variants were defined as coding, rare, and conserved. Additionally, \u201cKey Qualifying\u201d variants were Pathogenic\/Likely Pathogenic, or \u201cClinical\u201d based upon the presence of a corresponding diagnosis. Candidate association to CVS was based on a point system.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty-five paroxysmal genes were identified per the literature review. Among these, 12 genes were scored as \u201cHighly likely\u201d (<jats:italic>SCN4A<\/jats:italic>, <jats:italic>CACNA1A<\/jats:italic>, <jats:italic>CACNA1S<\/jats:italic>, <jats:italic>RYR2<\/jats:italic>, <jats:italic>TRAP1<\/jats:italic>, <jats:italic>MEFV<\/jats:italic>) or \u201cLikely\u201d (<jats:italic>SCN9A<\/jats:italic>, <jats:italic>TNFRSF1A<\/jats:italic>, <jats:italic>POLG<\/jats:italic>, <jats:italic>SCN10A<\/jats:italic>, <jats:italic>POGZ, TRPA1<\/jats:italic>) CVS related. Nine additional genes (<jats:italic>OTC, ATP1A3, ATP1A2, GFAP, SLC2A1, TUBB3<\/jats:italic>, <jats:italic>PPM1D<\/jats:italic>, <jats:italic>CHAMP1<\/jats:italic>, <jats:italic>HMBS<\/jats:italic>) had sufficient evidence in the literature but not from our study participants. Candidate status for mitochondrial DNA was confirmed by the literature and our study data. Among the above-listed 22 CVS candidate genes, a Key Qualifying variant was identified in 31\/80 (34%), and any Qualifying variant was present in 61\/80 (76%) of participants. These findings were highly statistically significant (<jats:italic>p<\/jats:italic>\u2009&amp;lt;\u20090.0001, <jats:italic>p<\/jats:italic>\u2009=\u20090.004, respectively) compared to an alternative hypothesis\/control group regarding brain neurotransmitter receptor genes. Additional, post-analyses, less-intensive review of all genes (exome) outside our paroxysmal genes identified 13 additional genes as \u201cPossibly\u201d CVS related.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>All 22 CVS candidate genes are associated with either cation transport or energy metabolism (14 directly, 8 indirectly). Our findings suggest a cellular model in which aberrant ion gradients lead to mitochondrial dysfunction, or vice versa, in a pathogenic vicious cycle of cellular hyperexcitability. Among the non-paroxysmal genes identified, 5 are known causes of peripheral neuropathy. Our model is consistent with multiple current hypotheses of CVS.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2023.1151835","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T11:45:17Z","timestamp":1683287117000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":18,"title":["Whole exome\/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial 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