Tooth-brushing epilepsy: A case report and literature review

Chan, David Yuen Chung; Chan, Danny Tat Ming; Zhu, Cannon Xian Lun; Lau, Claire Ka Yee; Leung, Howan; Poon, Wai Sang

doi:10.1016/j.clineuro.2016.03.016

Cited by 7 publications

(5 citation statements)

References 18 publications

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“…In our case, triggers consisted of hand washing and tooth brushing, both suggesting a specific sensitivity to somatosensory stimuli, especially prolonged stimuli, as occurs in rub epilepsy [9]. Tooth brushing has already been described as a trigger for seizures, especially in cases of focal epilepsy [10, 11]. In this case, there was no evidence of focal epileptiform activity or clinical signs orienting towards a focal origin of the seizures.…”

Section: Discussionsupporting

confidence: 48%

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Solazzi¹,

Fiorini²,

Parrini³

et al. 2021

Epileptic Disorders

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PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, intellectual disability, epilepsy and respiratory and gastrointestinal disorders. We report a child with PURA syndrome, harbouring a previously described mutation, whose phenotype included two peculiar aspects: (1) hypokinetic-rigid syndrome, which was part of the clinical presentation from an early stage of the disease, and (2) reflex seizures, consisting of a series of spasms. We provide detailed clinical description and video recordings demonstrating both these aspects that are newly described in PURA syndrome. The early clinical features described here may therefore be included in the complex phenotype associated with PURA gene mutations and may help in the early diagnosis of patients. Furthermore, PURA syndrome should be considered in the differential diagnosis of early-onset bradykinetic rigid syndromes.

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Section: Discussionsupporting

confidence: 48%

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Solazzi¹,

Fiorini²,

Parrini³

et al. 2021

Epileptic Disorders

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“…The patient's neuroimaging was normal, but electroencephalography detected left frontocentral spikes and the patient failed to respond to antiepileptic drugs (Holmes et al, 1982). We have located 17 cases of tooth-brushinginduced seizures described in the literature, but none of them were studied with SEEG recording and/or stimulation for brain mapping (Holmes et al, 1982;O'Brien et al, 1996;Koutroumanidis et al, 2001;Chuang et al, 2004;Navarro et al, 2006;D'Souza et al, 2007;Haytac et al, 2008;Kumada et al, 2013;Ott et al, 2014;Chan et al, 2016). Tooth-brushing seizures are caused by sensitive stimuli in the teeth and gums during brushing.…”

Section: Discussionmentioning

confidence: 99%

“…This epileptic phenomenon could originate from lesions located mostly in the central area, as reported elsewhere. (Chan et al ., 2016).…”

mentioning

confidence: 99%

Tooth‐brushing epilepsy: an SEEG study and surgical treatment

Martínez

Pacha

Francesco

et al. 2020

Epileptic Disorders

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We report a patient with reflex tooth‐brushing‐triggered epilepsy, associated with a post‐central lesion within the right somatosensory face area. Contralateral facial sensory and motor phenomena, associated with contralateral upper limb extension, were present at seizure onset after gingival stimulation, but seizures could also be induced by contact with solid food or liquids. Spontaneous seizures also were recorded. Secondary generalization was infrequent. Stereoelectroencephalography implantation was performed, with seizure recording and cortical/subcortical stimulation for mapping, to identify the precise extent of surgical resection. Complete postoperative control of epilepsy was achieved, accompanied by a mild and transient neurological deficit. [Published with video sequence].

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“…Although focal brain lesions, tumor, atrophy, cortical dysplasia, and gangliocytoma have been found in patients with toothbrushing epilepsy ( 6 , 9 , 13 ), brain lesions are not detected in the majority of patients. In addition, the semiology of seizures, neurological status, electroencephalogram (EEG), and brain magnetic resonance imaging (MRI) findings, and type and success of therapeutic intervention are highly heterogeneous across reports, adding to the complexity of this disease.…”

Section: Introductionmentioning

confidence: 99%

“…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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Tooth-brushing epilepsy: A case report and literature review

Cited by 7 publications

References 18 publications

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Tooth‐brushing epilepsy: an SEEG study and surgical treatment

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

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