Epilepsia refleja por cepillado de dientes

García-Fidalgo, J; Arteche-Prior, M; Sánchez-Lozano, A; Goicoechea-Astencio, Adriana; Andrade, Rômulo de Paula

doi:10.33588/rn.4207.2005580

Cited by 1 publication

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“…Toothbrushing epilepsy is a rare and intriguing form of RE that can be triggered by using a manual or electric toothbrush (2), by active or passive toothbrushing (3), or even by the mere thought or sight of a toothbrush or toothpaste (4). Notably, toothbrushing-induced epileptic seizures appear to be rare, with 17 reported cases to date (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Moreover, most toothbrushing epilepsy patients also suffer seizures unrelated to toothbrushing (4), including unprovoked seizures (3)(4)(5) as well as seizures due to oral-related triggers such as eating (11).…”

Section: Introductionmentioning

confidence: 99%

SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family

Zhou

Wang

et al. 2021

Front. Neurol.

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Toothbrushing epilepsy is a rare form of reflex epilepsy (RE) with sporadic incidence. To characterize the genetic profile of reflex epilepsy patients with tooth brushing-induced seizures in a Chinese family. Solo clinical whole-exome sequencing (WES) of the proband, a 37-year-old Chinese man, was performed to characterize the genetic etiology of toothbrushing epilepsy. Mutations in the maternal X-linked synapsin 1 (SYN1) identified in the proband and his family members were confirmed by Sanger sequencing. The pathogenicity of these mutations was determined using in silico analysis. The proband had four episodes of toothbrushing-induced seizures. The semiology included nausea, twitching of the right side of the mouth and face, followed by a generalized tonic-clonic seizure (GTCS). The proband's elder maternal uncle had three toothbrushing-induced epileptic seizures at the age of 26. The proband's younger maternal uncle had no history of epileptic seizures but had a learning disability and aggressive tendencies. We identified a deleterious nonsense mutation, c.1807C>T (p.Q603Ter), in exon 12 of the SYN1 gene (NM_006950), which can result in a truncated SYN1 phosphoprotein with altered flexibility and hydropathicity. This novel mutation has not been reported in the 1000G, EVS, ExAC, gnomAD, or HGMD databases. We identified a novel X-linked SYN1 exon 12 mutant gene in a Chinese family with toothbrushing epilepsy. Our findings provide novel insights into the mechanism of this complex form of reflex epilepsy that could potentially be applied in disease diagnosis.

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