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Advanced Neurology                                                 NPRL2 as possible actor in reflex seizures



               62: 106–107.                                       https://doi.org/10.3389/fneur.2021.780799
               https://doi.org/10.1016/j.seizure.2018.10.001   12.  Baldassari S, Picard F, Verbeek NE,  et  al., 2019, The
                                                                  landscape of epilepsy-related GATOR1 variants. Genet Med,
            5.   Parenti I, Leitão E, Kuechler A, et al., 2022, The different
               clinical facets of SYN1-related neurodevelopmental   21: 398–408.
               disorders. Front Cell Dev Biol, 10: 1019715.       https://doi.org/10.1038/s41436-018-0060-2
               https://doi.org/10.3389/fcell.2022.1019715      13.  Debopam  S,  2022,  DEPDC5-related  epilepsy:
                                                                  A comprehensive review. Epilepsy Behav, 130: 108678.
            6.   Michelucci R, Pulitano P, Di Bonaventura C, et al., 2017, The
               clinical phenotype of autosomal dominant lateral temporal      https://doi.org/10.1016/j.yebeh.2022.108678
               lobe epilepsy related to reelin mutations.  Epilepsy Behav,   14.  Baulac S, Ishida S, Marsan E,  et al., 2015, Familial focal
               68: 103–107.
                                                                  epilepsy  with  focal  cortical  dysplasia  due  to  DEPDC5
                https://doi.org/10.1016/j.yebeh.2016.12.003       mutations. Ann Neurol, 77: 675–683.
            7.   Mellerio C, Roca P, Chassoux F,  et al., 2014, The power      https://doi.org/10.1002/ana.24368
               button sign: A  newly described central sulcal pattern   15.  Sala-Padró J, Toledo M, Sarria S, et al., 2015, Reflex seizures
               on surface  rendering MR images  of  type  2 focal  cortical   triggered by cutaneous stimuli. Seizure, 33: 72–75.
               dysplasia. Radiology, 274: 500–507.
                                                                  https://doi.org/10.1016/j.seizure.2015.10.013
               https://doi.org/10.1148/radiol.14140773
                                                               16.  Kanemoto K, Watanabe Y, Tsuji T,  et al., 2001, Rub
            8.   Feyissa AM, Patterson MC, Wong-Kisiel LC, 2016, Too old   epilepsy: A somatosensory evoked reflex epilepsy induced
               for a diaper! A child with diaper changing-induced seizures.   by prolonged cutaneous stimulation.  J  Neurol Neurosurg
               Pediatr Neurol, 54: 91–92.
                                                                  Psychiatry, 70: 541–543.
               https://doi.org/10.1016/j.pediatrneurol.2015.09.007
                                                                  https://doi.org/10.1136/jnnp.70.4.541
            9.   Mosquera-Gorostidi A, Azcona-Ganuza G, Yoldi-Petri ME,   17.  Kravljanac R, Djuric M, Milovanovic M,  et al., 2012,
               et al., 2019, Ictal video-electroencephalography findings in   Epileptic seizures provoked by bathing with water at room
               bathing seizures: Two new cases and review of the literature.   temperature. Epileptic Disord, 14: 321–324.
               Pediatr Neurol, 99: 76–81.
                                                                  https://doi.org/10.1684/epd.2012.0520
               https://doi.org/10.1016/j.pediatrneurol.2019.04.017
                                                               18.  Cappellari AM, Bulgaro C, Bruschi G, et al., 2021, Bathing
            10.  Franzoni E, Gentile V, Grosso S,  et al., 2010, Bathing   epilepsy: A video case report. Epileptic Disord, 23: 639–642.
               epilepsy: Report of two Caucasian cases.  Epileptic  Disord,
               12: 88–90.                                         https://doi.org/10.1684/epd.2021.1295
               https://doi.org/10.1684/epd.2010.0295           19.  Nguyen DK, Rouleau I, Sénéchal G, et al., 2015, X-linked
                                                                  focal epilepsy with reflex bathing seizures: Characterization
            11.  Sun Y, Wan L, Yan H, et al., 2021, Phenotypic and genotypic   of a distinct epileptic syndrome. Epilepsia, 56: 1098–1108.
               characterization of NPRL2-related epilepsy: Two case
               reports and literature review. Front Neurol, 12: 780799.      https://doi.org/10.1111/epi.13042




























            Volume 2 Issue 4 (2023)                         5                         https://doi.org/10.36922/an.1379
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