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Photosensitive tonic-clonic seizure

MedGen UID:
335345
Concept ID:
C1846131
Disease or Syndrome
Synonym: Seizures, tonic-clonic, photosensitive
 
HPO: HP:0007207

Definition

Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Photosensitive tonic-clonic seizure

Conditions with this feature

Epilepsy, photogenic, with spastic diplegia and intellectual disability
MedGen UID:
347333
Concept ID:
C1856931
Disease or Syndrome
Christianson syndrome
MedGen UID:
394455
Concept ID:
C2678194
Disease or Syndrome
Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.

Professional guidelines

PubMed

Smith KM, Youssef PE, Wirrell EC, Nickels KC, Payne ET, Britton JW, Shin C, Cascino GD, Patterson MC, Wong-Kisiel LC
Pediatr Neurol 2018 Sep;86:46-51. Epub 2018 Jul 10 doi: 10.1016/j.pediatrneurol.2018.06.001. PMID: 30082241
Verrotti A, Beccaria F, Fiori F, Montagnini A, Capovilla G
Epileptic Disord 2012 Dec;14(4):349-62. doi: 10.1684/epd.2012.0539. PMID: 23274161
Covanis A, Stodieck SR, Wilkins AJ
Epilepsia 2004;45 Suppl 1:40-5. doi: 10.1111/j.0013-9580.2004.451006.x. PMID: 14706045

Recent clinical studies

Etiology

Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Gewirtz AN, Gao V, Parauda SC, Robbins MS
Curr Pain Headache Rep 2021 Feb 25;25(3):19. doi: 10.1007/s11916-020-00932-1. PMID: 33630183Free PMC Article
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
von Rosenstiel P
Neurotherapeutics 2007 Jan;4(1):84-7. doi: 10.1016/j.nurt.2006.11.004. PMID: 17199019Free PMC Article
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Diagnosis

Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Gewirtz AN, Gao V, Parauda SC, Robbins MS
Curr Pain Headache Rep 2021 Feb 25;25(3):19. doi: 10.1007/s11916-020-00932-1. PMID: 33630183Free PMC Article
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Baykan B, Wolf P
Seizure 2017 Jul;49:36-41. Epub 2017 May 18 doi: 10.1016/j.seizure.2017.05.011. PMID: 28544889
Harding GF, Takahashi T
Epilepsia 2004;45 Suppl 1:46-7. doi: 10.1111/j.0013-9580.2004.451007.x. PMID: 14706046

Therapy

Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Harding GF, Takahashi T
Epilepsia 2004;45 Suppl 1:46-7. doi: 10.1111/j.0013-9580.2004.451007.x. PMID: 14706046
Bureau M, Hirsch E, Vigevano F
Epilepsia 2004;45 Suppl 1:24-6. doi: 10.1111/j.0013-9580.2004.451003.x. PMID: 14706041
Clement MJ, Wallace SJ
Arch Dis Child 1988 Sep;63(9):1049-53. doi: 10.1136/adc.63.9.1049. PMID: 3140737Free PMC Article

Prognosis

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
Gewirtz AN, Gao V, Parauda SC, Robbins MS
Curr Pain Headache Rep 2021 Feb 25;25(3):19. doi: 10.1007/s11916-020-00932-1. PMID: 33630183Free PMC Article
Baykan B, Wolf P
Seizure 2017 Jul;49:36-41. Epub 2017 May 18 doi: 10.1016/j.seizure.2017.05.011. PMID: 28544889

Clinical prediction guides

Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M
Epileptic Disord 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. PMID: 27435520
von Rosenstiel P
Neurotherapeutics 2007 Jan;4(1):84-7. doi: 10.1016/j.nurt.2006.11.004. PMID: 17199019Free PMC Article

Recent systematic reviews

Kasteleijn-Nolst Trenite D, Genton P, Brandt C, Reed RC
Epilepsy Res 2017 Jul;133:113-120. Epub 2016 Dec 2 doi: 10.1016/j.eplepsyres.2016.11.012. PMID: 28034485

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