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EEG with photoparoxysmal response

MedGen UID:
765735
Concept ID:
C3552821
Finding
Synonym: Photoparoxysmal response on EEG
 
HPO: HP:0010852

Definition

EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. [from HPO]

Conditions with this feature

Epilepsy, familial adult myoclonic, 1
MedGen UID:
371424
Concept ID:
C1832841
Disease or Syndrome
Familial adult myoclonic epilepsy-1 (FAME1), also known as familial cortical myoclonic tremor associated with epilepsy-1 (FCMTE1), is characterized by autosomal dominant, adult-onset cortical myoclonus, with seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of southern Asian descent (summary by Bennett et al., 2020). Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See also FAME2 (607876), caused by mutation in the STARD7 gene (616712) on chromosome 2q11; FAME3 (613608), caused by mutation in the MARCHF6 gene (613297) on chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME5 (615400), caused by mutation in the CNTN2 gene (190197) on chromosome 1q32; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4. Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800).
Epilepsy, familial adult myoclonic, 2
MedGen UID:
375031
Concept ID:
C1842852
Disease or Syndrome
Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Megalencephaly with dysmyelination
MedGen UID:
344470
Concept ID:
C1855309
Disease or Syndrome
Photoparoxysmal response 1
MedGen UID:
358382
Concept ID:
C1868677
Disease or Syndrome
The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation (Doose and Waltz, 1993). Photosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see 600669), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy (Stephani et al., 2004; Tauer et al., 2005). Genetic Heterogeneity of Photoparoxysmal Response The PPR1 locus has been mapped to chromosome 6p21. See also PPR2 (609572), mapped to chromosome 13q31, and PPR3 (609573), mapped to chromosome 7q32.
Epilepsy, familial adult myoclonic, 3
MedGen UID:
462210
Concept ID:
C3150860
Disease or Syndrome
Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Developmental and epileptic encephalopathy, 19
MedGen UID:
816730
Concept ID:
C3810400
Disease or Syndrome
Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mildly to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; 607208) (summary by Carvill et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Progressive myoclonic epilepsy type 8
MedGen UID:
1680582
Concept ID:
C5190825
Disease or Syndrome
Progressive myoclonic epilepsy-8 (EPM8) is a rare autosomal recessive form of progressive myoclonic epilepsy with phenotypic variability including ataxia and other movement disorders in addition to myoclonus (summary by Godeiro et al., 2018). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Developmental and epileptic encephalopathy 100
MedGen UID:
1809351
Concept ID:
C5676932
Disease or Syndrome
Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with dystonia and seizures
MedGen UID:
1804461
Concept ID:
C5677004
Disease or Syndrome
Neurodevelopmental disorder with dystonia and seizures (NEDDS) is a severe autosomal recessive disorder characterized by hypotonia and dystonic posturing apparent from early infancy. Affected individuals show global developmental delay with inability to walk or speak and have profoundly impaired intellectual development, often with behavioral abnormalities. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging (Sleiman et al., 2022).

Professional guidelines

PubMed

Malow BA, Reese KB, Sato S, Bogard PJ, Malhotra AK, Su TP, Pickar D
Electroencephalogr Clin Neurophysiol 1994 Sep;91(3):205-11. doi: 10.1016/0013-4694(94)90070-1. PMID: 7522149

Recent clinical studies

Etiology

Zawar I, Shreshtha B, Benech D, Burgess RC, Bulacio J, Knight EMP
J Clin Neurophysiol 2024 Jan 1;41(1):83-92. Epub 2022 Apr 8 doi: 10.1097/WNP.0000000000000942. PMID: 35394968
Zawar I, Toribio MGG, Xu X, Alnakhli RS, Benech D, Valappil AMN, Wyllie E, Burgess R, Kotagal P, Lachhwani D, Gupta A, Knight EP
Epilepsy Res 2022 Mar;181:106886. Epub 2022 Feb 11 doi: 10.1016/j.eplepsyres.2022.106886. PMID: 35180638
Rathore C, Prakash S, Makwana P
Seizure 2020 Nov;82:39-43. Epub 2020 Sep 18 doi: 10.1016/j.seizure.2020.09.006. PMID: 32979604
Skadorwa T, Strzelecka J
Neurol Neurochir Pol 2020;54(2):193-199. Epub 2020 Apr 8 doi: 10.5603/PJNNS.a2020.0030. PMID: 32266948
von Rosenstiel P
Neurotherapeutics 2007 Jan;4(1):84-7. doi: 10.1016/j.nurt.2006.11.004. PMID: 17199019Free PMC Article

Diagnosis

Zawar I, Shreshtha B, Benech D, Burgess RC, Bulacio J, Knight EMP
J Clin Neurophysiol 2024 Jan 1;41(1):83-92. Epub 2022 Apr 8 doi: 10.1097/WNP.0000000000000942. PMID: 35394968
Zawar I, Toribio MGG, Xu X, Alnakhli RS, Benech D, Valappil AMN, Wyllie E, Burgess R, Kotagal P, Lachhwani D, Gupta A, Knight EP
Epilepsy Res 2022 Mar;181:106886. Epub 2022 Feb 11 doi: 10.1016/j.eplepsyres.2022.106886. PMID: 35180638
Meritam Larsen P, Wüstenhagen S, Terney D, Gardella E, Alving J, Aurlien H, Beniczky S
Clin Neurophysiol 2021 Feb;132(2):365-371. Epub 2021 Jan 12 doi: 10.1016/j.clinph.2020.10.029. PMID: 33450559
Rathore C, Prakash S, Makwana P
Seizure 2020 Nov;82:39-43. Epub 2020 Sep 18 doi: 10.1016/j.seizure.2020.09.006. PMID: 32979604
Poleon S, Szaflarski JP
Epilepsy Behav 2017 Mar;68:225-233. Epub 2017 Feb 16 doi: 10.1016/j.yebeh.2016.10.040. PMID: 28215998

Therapy

Kasteleijn-Nolst Trenite DGA, DiVentura BD, Pollard JR, Krauss GL, Mizne S, French JA
Neurology 2019 Aug 6;93(6):e559-e567. Epub 2019 Jul 10 doi: 10.1212/WNL.0000000000007894. PMID: 31292226Free PMC Article
Padmanaban V, Inati S, Ksendzovsky A, Zaghloul K
Brain Res 2019 Jan 15;1703:18-25. Epub 2018 Aug 1 doi: 10.1016/j.brainres.2018.07.025. PMID: 30076791
Poleon S, Szaflarski JP
Epilepsy Behav 2017 Mar;68:225-233. Epub 2017 Feb 16 doi: 10.1016/j.yebeh.2016.10.040. PMID: 28215998
von Rosenstiel P
Neurotherapeutics 2007 Jan;4(1):84-7. doi: 10.1016/j.nurt.2006.11.004. PMID: 17199019Free PMC Article
Verrotti A, Trotta D, Salladini C, di Corcia G, Chiarelli F
J Child Neurol 2004 Aug;19(8):571-8. doi: 10.1177/088307380401900802. PMID: 15605465

Prognosis

Zawar I, Shreshtha B, Benech D, Burgess RC, Bulacio J, Knight EMP
J Clin Neurophysiol 2024 Jan 1;41(1):83-92. Epub 2022 Apr 8 doi: 10.1097/WNP.0000000000000942. PMID: 35394968
Padmanaban V, Inati S, Ksendzovsky A, Zaghloul K
Brain Res 2019 Jan 15;1703:18-25. Epub 2018 Aug 1 doi: 10.1016/j.brainres.2018.07.025. PMID: 30076791
Binelli S, Ragona F, Canafoglia L, Freri E, Saletti V, Casazza M, Gilioli I, D'Arrigo S, Visani E, Panzica F, Granata T, Riva D, Franceschetti S
J Child Neurol 2015 Nov;30(13):1824-30. Epub 2015 May 5 doi: 10.1177/0883073815583687. PMID: 25944474
Verrotti A, Trotta D, Salladini C, di Corcia G, Chiarelli F
J Child Neurol 2004 Aug;19(8):571-8. doi: 10.1177/088307380401900802. PMID: 15605465
Harding GF, Edson A, Jeavons PM
Epilepsia 1997 Jun;38(6):663-9. doi: 10.1111/j.1528-1157.1997.tb01235.x. PMID: 9186248

Clinical prediction guides

Zawar I, Shreshtha B, Benech D, Burgess RC, Bulacio J, Knight EMP
J Clin Neurophysiol 2024 Jan 1;41(1):83-92. Epub 2022 Apr 8 doi: 10.1097/WNP.0000000000000942. PMID: 35394968
Meritam Larsen P, Wüstenhagen S, Terney D, Gardella E, Alving J, Aurlien H, Beniczky S
Clin Neurophysiol 2021 Feb;132(2):365-371. Epub 2021 Jan 12 doi: 10.1016/j.clinph.2020.10.029. PMID: 33450559
Padmanaban V, Inati S, Ksendzovsky A, Zaghloul K
Brain Res 2019 Jan 15;1703:18-25. Epub 2018 Aug 1 doi: 10.1016/j.brainres.2018.07.025. PMID: 30076791
Koeleman BP, de Kovel CG, Kasteleijn-Nolst Trenité DG
Epilepsy Behav 2013 Jul;28 Suppl 1:S69-71. doi: 10.1016/j.yebeh.2012.07.016. PMID: 23756485
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

Reynolds A, Vranic-Peters M, Lai A, Grayden DB, Cook MJ, Peterson A
Epilepsia 2023 May;64(5):1125-1174. Epub 2023 Mar 16 doi: 10.1111/epi.17548. PMID: 36790369
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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