AccScience Publishing / AN / Volume 2 / Issue 4 / DOI: 10.36922/an.1379
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Expanding the spectrum of gene-associated reflex seizures: A case report of a “bidet-induced” reflex epilepsy

Tommaso Lo Barco1,2* Jacopo Proietti2,3 Luna Fontanelli4 Ilaria Campari4 Benedetta Piccolo5 Francesca Ormitti6 Emanuela Claudia Turco5
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1 Child Neuropsychiatry Unit, Epilepsy Center, “C. Poma Hospital”, Mantova, Italy
2 Center for Research on Epilepsies in Pediatric Age (CREP), Verona, Italy
3 Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynaecology and Pediatrics, University of Verona, Full Member of European Reference Network EpiCARE, Verona, Italy
4 Child Neuropsychiatry Unit, Department of Mental Health and Pathological Addictions, Azienda USL di Parma, Parma, Italy
5 Child Neurology and Psychiatry Unit, University Hospital of Parma, Parma, Italy
6 Neuroradiology Unit, University Hospital of Parma, Parma, Italy
Advanced Neurology 2023, 2(4), 1379
Submitted: 26 July 2023 | Accepted: 12 October 2023 | Published: 20 November 2023
© 2023 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( )

In this case report, we present the case of a 20-month-old girl who manifested paroxysmal “bidet-induced” episodes characterized by impaired awareness, pallor, and hypotonia, with a duration of less than a minute. Initial neurological examination yielded unremarkable results, prompting further investigation. A video-electroencephalogram recording documented the epileptic nature of these episodes, revealing an ictal discharge originating from the right central-temporal region. A brain magnetic resonance imaging exhibited a sulcal/gyral asymmetry within the central sulci, along with the presence of the “power button sign” within the right central sulcus. These findings were indicative of a focal cortical dysplasia type-2. Subsequent genetic analysis through a gene panel identified the presence of an NPRL2 variant. Mutations affecting this particular gene are known to disrupt the normal functioning of the GATOR1 complex, potentially causing focal cortical dysplasia and various forms of epilepsy, including familial focal epilepsy with variable foci. On the diagnosis, the patient received levetiracetam, and the ictal episodes promptly ceased. At the most recent follow-up (at 4 years old), the patient remained free of seizures without the need for any treatment, and her neurodevelopment so far had exhibited no abnormalities. Considering the landscape of epilepsy-related GATOR1 variants, it is conceivable that this gene family may play a significant role in the pathogenesis of benign forms of focal reflex seizures, including bathing epilepsy.

Reflex seizures
Focal cortical dysplasia
Focal epilepsy with variable foci
  1. Riney K, Bogacz A, Somerville E, et al., 2022, International League against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63: 1443–1474.


  1. Palmini A, Halasz P, Scheffer IE, et al., 2005, Reflex seizures in patients with malformations of cortical development and refractory epilepsy. Epilepsia, 46: 1224–1234.


  1. Solazzi R, Fiorini E, Parrini E, et al., 2018, Diaper changing-induced reflex seizures in CDKL5-related epilepsy. Epileptic Disord, 20: 428–433.


  1. Jain P, Gulati P, Alsowat D, et al., 2018, Perineal stimulation triggering seizures in a child with Dravet syndrome. Seizure, 62: 106–107.


  1. Parenti I, Leitão E, Kuechler A, et al., 2022, The different clinical facets of SYN1-related neurodevelopmental disorders. Front Cell Dev Biol, 10: 1019715.


  1. Michelucci R, Pulitano P, Di Bonaventura C, et al., 2017, The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations. Epilepsy Behav, 68: 103–107.


  1. Mellerio C, Roca P, Chassoux F, et al., 2014, The power button sign: A newly described central sulcal pattern on surface rendering MR images of type 2 focal cortical dysplasia. Radiology, 274: 500–507.


  1. Feyissa AM, Patterson MC, Wong-Kisiel LC, 2016, Too old for a diaper! A child with diaper changing-induced seizures. Pediatr Neurol, 54: 91–92.


  1. Mosquera-Gorostidi A, Azcona-Ganuza G, Yoldi-Petri ME, et al., 2019, Ictal video-electroencephalography findings in bathing seizures: Two new cases and review of the literature. Pediatr Neurol, 99: 76–81.


  1. Franzoni E, Gentile V, Grosso S, et al., 2010, Bathing epilepsy: Report of two Caucasian cases. Epileptic Disord, 12: 88–90.


  1. Sun Y, Wan L, Yan H, et al., 2021, Phenotypic and genotypic characterization of NPRL2-related epilepsy: Two case reports and literature review. Front Neurol, 12: 780799.


  1. Baldassari S, Picard F, Verbeek NE, et al., 2019, The landscape of epilepsy-related GATOR1 variants. Genet Med, 21: 398–408.


  1. Debopam S, 2022, DEPDC5-related epilepsy: A comprehensive review. Epilepsy Behav, 130: 108678.


  1. Baulac S, Ishida S, Marsan E, et al., 2015, Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol, 77: 675–683.


  1. Sala-Padró J, Toledo M, Sarria S, et al., 2015, Reflex seizures triggered by cutaneous stimuli. Seizure, 33: 72–75.


  1. Kanemoto K, Watanabe Y, Tsuji T, et al., 2001, Rub epilepsy: A somatosensory evoked reflex epilepsy induced by prolonged cutaneous stimulation. J Neurol Neurosurg Psychiatry, 70: 541–543.


  1. Kravljanac R, Djuric M, Milovanovic M, et al., 2012, Epileptic seizures provoked by bathing with water at room temperature. Epileptic Disord, 14: 321–324.


  1. Cappellari AM, Bulgaro C, Bruschi G, et al., 2021, Bathing epilepsy: A video case report. Epileptic Disord, 23: 639–642.


  1. Nguyen DK, Rouleau I, Sénéchal G, et al., 2015, X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome. Epilepsia, 56: 1098–1108.
Conflict of interest
The authors declare that they have no competing interests.
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Advanced Neurology, Electronic ISSN: 2810-9619 Published by AccScience Publishing