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Neurol."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the contribution of genetic etiologies in epilepsy with photosensitivity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic variants were identified in 35 patients, including <jats:italic>SCN1A<\/jats:italic>(7) <jats:italic>CHD2<\/jats:italic>(6), <jats:italic>TPP1<\/jats:italic>(3), <jats:italic>SYNGAP1<\/jats:italic>(3), <jats:italic>GABRA1<\/jats:italic>(2), <jats:italic>GABRG2<\/jats:italic>(1), <jats:italic>KCTD7<\/jats:italic>(1), <jats:italic>MFSD8<\/jats:italic>(1), <jats:italic>KCNC1<\/jats:italic>(1) <jats:italic>GBA<\/jats:italic>(1), <jats:italic>CACNA1A<\/jats:italic>(1), <jats:italic>KCNMA1<\/jats:italic>(1), <jats:italic>FLNA<\/jats:italic>(1), <jats:italic>SZT2<\/jats:italic>(1), <jats:italic>SLC2A1<\/jats:italic>(1), 5q33.2-34del(1), and mitochondrial variants(3). The predominant epileptic syndrome was progressive myoclonus epilepsy (PME) and Dravet syndrome, while the most common seizure type in both spontaneous seizures and photoconvulsive response (PCR) was myoclonic seizures. The abnormal EEG background and brain MRI were mainly seen in the PME patients. In PME, initial low-frequencies (1\u20136 Hz) photosensitivity was observed in 70% (7\/10) of patients. Among the other patients, 12 patients (48.0%, 12\/25) had photosensitivity at initial low -frequencies and 12 patients (48.0%, 12\/25) had photosensitivity at initial middle frequencies (6\u201320 Hz). At the 1-year follow-up, 77.7% (21\/27) still remained photosensitive.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The most common genes for epilepsy with genetic photosensitivity are <jats:italic>SCN1A<\/jats:italic> and <jats:italic>CHD2<\/jats:italic>, and the most common syndromes are PME and Dravet syndrome. <jats:italic>MFSD8, KCNMA1, SZT2, FLNA<\/jats:italic>, and <jats:italic>SLC2A1<\/jats:italic> variants might be candidate genes for photosensitivity. PPRs at initial low-frequencies may be a marker of PME, and the most typical feature of genetic photosensitivity may be low- or middle- frequencies induced PPRs. Photosensitivity in epilepsy with genetic photosensitivity may be difficult to disappear in a short period of time.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2022.907228","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T11:14:03Z","timestamp":1660216443000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity"],"prefix":"10.3389","volume":"13","author":[{"given":"Yue","family":"Niu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pan","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianru","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1046\/j.1528-1157.2001.05300.x","article-title":"Photosensitivity in relation to epileptic syndromes: asurvey from an epilepsy center in Japan","volume":"42","author":"Shiraishi","year":"2001","journal-title":"Epilepsia."},{"key":"B2","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1111\/j.1468-1331.2005.01085.x","article-title":"Human photosensitivity: from pathophysiology to treatment","volume":"12","author":"Verrotti","year":"2005","journal-title":"Eur J Neurol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.brainres.2018.07.025","article-title":"Clinical advances in photosensitive epilepsy","volume":"1703","author":"Padmanaban","year":"2019","journal-title":"Brain Res."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1380","DOI":"10.1111\/epi.13820","article-title":"Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease","volume":"58","author":"Specchio","year":"2017","journal-title":"Epilepsia."},{"key":"B5","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/j.seizure.2017.04.001","article-title":"Photosensitivity and epilepsy: Current concepts and perspectives-a narrative review","volume":"50","author":"Martins da Silva","year":"2017","journal-title":"Seizure."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1093\/brain\/awv052","article-title":"CHD2 variants are a risk factor for photosensitivity in epilepsy","volume":"138","author":"Galizia","year":"2015","journal-title":"Brain."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1212\/WNL.0000000000003087","article-title":"Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies","volume":"87","author":"Johannesen","year":"2016","journal-title":"Neurology."},{"key":"B8","doi-asserted-by":"publisher","first-page":"369","DOI":"10.18926\/AMO\/48961","article-title":"Dravet syndrome: a genetic epileptic disorder","volume":"66","author":"Akiyama","year":"2012","journal-title":"Acta Med Okayama."},{"key":"B9","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1111\/j.1528-1157.1999.tb00911.x","article-title":"Photic stimulation: standardization of screening methods","volume":"40","author":"Kasteleijn-Nolst Trenit\u00e9","year":"1999","journal-title":"Epilepsia"},{"key":"B10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"B11","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1111\/epi.16303","article-title":"Replication, reanalysis, and gene expression: ME2 and genetic generalized epilepsy","volume":"60","author":"Wang","year":"2019","journal-title":"Epilepsia."},{"key":"B12","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1136\/jmedgenet-2013-102256","article-title":"Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype\/phenotype correlations","volume":"51","author":"Bricout","year":"2014","journal-title":"J Med Genet."},{"key":"B13","first-page":"115","article-title":"Early diagnosis of Lafora disease. 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