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The objective of this paper is to characterise the clinical spectrum of SCA27A microdeletions (&gt;\u200950\u00a0bp, &lt;2Mbp), and report two novel cases.\u00a0Literature searches of PubMed, OMIM and ClinVar were carried out. We identified SCA27A microdeletions in 32 cases across 11 families. The phenotypic presentation is: 75% (24\/32) nystagmus, 46% (15\/32) ataxia, 21% (7\/32) episodic ataxia, 21% (7\/32) tremor, 15% (5\/32) dysarthria, 34% (11\/32) learning disability, 28% (8\/32) neuropsychiatric disease. The presentation is variable within and between families. Episodic symptoms, nystagmus, learning disability and neuropsychiatric symptoms occur at an earlier age. Patient 1 represents the first case with a 58 kb\n                    <jats:italic>FGF14<\/jats:italic>\n                    deletion who presented with a paroxysmal movement disorder. Patient 2 carries a 545\u00a0kb deletion and developed episodic ataxia and trigeminal neuralgia, a novel feature not previously described in this cohort. We report two cases of heterozygous\n                    <jats:italic>FGF14<\/jats:italic>\n                    microdeletions: Patient 1 (58\u00a0kb) and Patient 2 (545\u00a0kb), expanding the phenotypic spectrum of\n                    <jats:italic>FGF14<\/jats:italic>\n                    structural variants to 32 cases across 11 families. We review potential mechanism from pre-clinical studies relating\n                    <jats:italic>FGF14<\/jats:italic>\n                    haploinsufficiency to cerebellar, cognitive, neuropsychiatric symptoms, as well as trigeminal neuralgia. We propose the hypothesis that the episodic symptoms in SCA27A align with the molecular pathology of a channelopathy and propose management strategies based on this insight.\n                  <\/jats:p>","DOI":"10.1007\/s12311-025-01919-7","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T10:51:17Z","timestamp":1760611877000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Spinocerebellar Ataxia 27\u00a0A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions"],"prefix":"10.1007","volume":"24","author":[{"given":"Elena","family":"Conci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"Harijan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,16]]},"reference":[{"issue":"1","key":"1919_CR1","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1086\/345488","volume":"72","author":"JC van Swieten","year":"2003","unstructured":"van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, et al. 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