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The persistently frequent but intermittent behaviors during wakefulness lasted minutes at a time numerous times each hour of the day and were associated with pronounced irritability relieved only with sleep. Analgesics were unhelpful. Carbamazepine at anticonvulsant doses was deployed for a presumptive diagnosis of trigeminal neuralgia (TN), which not only resulted in an estimated 90% reduction of the self\u2010injurious behaviors after a month, but also enabled the <jats:italic>lip<\/jats:italic> and right <jats:italic>eye<\/jats:italic> lesions to completely heal over the next several months. Genetic testing (exome sequencing [ES]) demonstrated a homozygous pathogenic variant in the <jats:italic>TOPORS<\/jats:italic> gene (c.29 C&gt;A, p.P10Q, # OMIM 609507). We review the history of TN and Dandy\u2010Walker syndrome (DWS) and speculate on their relationship in this patient, the youngest such reported incidence of TN in the literature while adding additional clinical features to the continuum of <jats:italic>TOPORS<\/jats:italic> phenotypes.<\/jats:p>","DOI":"10.1002\/ajmg.a.64117","type":"journal-article","created":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T08:58:47Z","timestamp":1747126727000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Trigeminal Neuralgia in a 12\u2010Month\u2010Old Boy With Dandy\u2010Walker Malformation and Homozygous Pathogenic <i>TOPORS<\/i> Variant"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0453-7983","authenticated-orcid":false,"given":"K. 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D.","family":"Brown","sequence":"additional","affiliation":[{"name":"Warren Alpert Medical School at Brown University  Providence Rhode Island USA"},{"name":"Division of Child Neurology Hasbro Children's\/Rhode Island Hospital  Providence Rhode Island USA"},{"name":"Department of Pediatrics Hasbro Children's\/Rhode Island Hospital  Providence Rhode Island USA"},{"name":"Department of Neurology Hasbro Children's\/Rhode Island Hospital  Providence Rhode Island USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400903"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028274"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326\u20105377.1965.tb71862.x"},{"issue":"2","key":"e_1_2_8_5_1","first-page":"254","article-title":"On Tic Douloureux: \u201cThe Painful Affection of the Face, Dolor Faciei Crucians,\u201d of Fothergill, With a New Operation for Its Cure","volume":"10","author":"Carnochan J. 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