{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:22:25Z","timestamp":1787757745176,"version":"build-2784847793"},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Sporadic nonlesional intractable visual-sensitive epilepsies of childhood represent a challenging subset of epilepsies in terms of management and prognostication given a propensity to evolve as epileptic encephalopathy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To study the genetic heterogeneity of drug-resistant visual sensitive epilepsy of childhood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A retrospective chart review was conducted on patients in the pediatric age group between 2016 and 2018, with drug-resistant epilepsy (DRE) and video electro encephalography (VEEG) documented reflex photosensitivity, eye-condition sensitivity. Those patients who underwent genetic testing with targeted next-generation sequencing using an epilepsy gene panel were selected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      During the study period, out of 96 patients who underwent genetic testing, 4 patients (4.17%) with sporadic DRE presented with clinical phenotypes ranging from myoclonic-atonic epilepsy, generalized epilepsy with eyelid myoclonia as well as febrile and unprovoked seizures, along with visual sensitivity. Video EEG documented abnormalities ranged from occipital, posterior-cortex and generalized discharges with \u201ceyes-closed state\u201d triggered, self-induced \u201csmart-phone\u201d triggered, photosensitive focal-onset and generalized myoclonic seizures. Accompanying developmental impairment was noted. These patients who were investigated with clinical exome sequencing were detected to have mutations in not only\n                      <jats:italic toggle=\"yes\">SCN1A<\/jats:italic>\n                      genes (pathogenic exonic and intronic variants) but also\n                      <jats:italic toggle=\"yes\">CHD2<\/jats:italic>\n                      (pathogenic) and\n                      <jats:italic toggle=\"yes\">CACNA1H<\/jats:italic>\n                      genes (a familial febrile-seizure susceptibility variant of unknown significance).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The series highlights the complex genetics of drug-resistant visual-sensitive epilepsy of childhood. Such genotype\u2013phenotype associations throw light on the role of ion-channel and non-ion channel genes on reflex epileptogenesis in this group of patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.333508","type":"journal-article","created":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T01:47:50Z","timestamp":1640656070000},"page":"1701-1705","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Drug-resistant 'Non-Lesional' Visual Sensitive Epilepsies of Childhood \u2013 Electroclinical Phenotype\u2013Genotype Associations"],"prefix":"10.4103","volume":"69","author":[{"given":"Ramshekhar N","family":"Menon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poornima N","family":"Nambiar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RR","family":"Keni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitupam","family":"Baishya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashalatha","family":"Radhakrishnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajith","family":"Cherian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GK","family":"Madhavilatha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udaya H","family":"Kotecha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev V","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-39-20240907","first-page":"e28","article-title":"SiblingswithrefractoryoccipitalepilepsyshowinglocalizednetworkactivityonEEG-fMRI","volume":"54","author":"Carney","year":"2013","journal-title":"Epilepsia"},{"key":"R2-39-20240907","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.seizure.2018.03.027","article-title":"Electroclinicalcharacteristicsandsyndromicassociationsof\u201ceye-condition\u201drelatedvisualsensitiveepilepsies-Across-sectionalstudy","volume":"30","author":"Karkare","year":"2018","journal-title":"Seizure"},{"key":"R3-39-20240907","first-page":"825","article-title":"Target edresequencing inepilepticencephalopathiesidentifies denovomutationsin CHD2andSYNGAP1","volume":"45","author":"Carvill","year":"2013","journal-title":"NatGenet"},{"key":"R4-39-20240907","first-page":"304","article-title":"Thegeneticlandscapeofthe epilepticencephalopathiesofinfancy andchildhood","volume":"15","author":"McTague","year":"2016","journal-title":"LancetNeurol"},{"key":"R5-39-20240907","first-page":"1327","article-title":"Denovomutationsinthesodium-channelgene SCN1Acauseseveremyoclonicepilepsyofinfancy","volume":"68","author":"Claes","year":"2001","journal-title":"AmJ HumGenet"},{"key":"R6-39-20240907","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/WNL.0000000000000291","article-title":"GABRA 1andSTXBP1: Novel geneticcausesofDravetsyndrome","volume":"82","author":"Carvill","year":"2014","journal-title":"Neurology"},{"key":"R7-39-20240907","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.seizure.2017.02.009","article-title":"\u201dSelfie-epilepsy\u201d: Anovelphotosensitivity","volume":"47","author":"Brna","year":"2017","journal-title":"Seizure"},{"key":"R8-39-20240907","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1212\/WNL.0b013e31828ab349","article-title":"Genetics of epilepsysyndromesinfamilies with photosensitivity","volume":"80","author":"Taylor","year":"2013","journal-title":"Neurology"},{"key":"R9-39-20240907","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1212\/WNL.0000000000001305","article-title":"CHD2my oclonicencephalopathyisfrequentlyassociatedwithself-inducedseizures","volume":"84","author":"Thomas","year":"2015","journal-title":"Neurology"},{"key":"R10-39-20240907","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.seizure.2017.09.001","article-title":"CHD2mutations: Onlyepilepsy? 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