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Photoparoxysmal response 2(PPR2)

MedGen UID:
324401
•Concept ID:
C1835967
•
Disease or Syndrome
Synonyms: PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY; PPR2
 
Monarch Initiative: MONDO:0012304
OMIM®: 609572

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.
Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J
Epileptic Disord 2023 Feb;25(1):80-86. Epub 2023 Apr 17 doi: 10.1002/epd2.20052. PMID: 36946369
Photosensitivity: the magnitude of the problem.
de Bittencourt PR
Epilepsia 2004;45 Suppl 1:30-4. doi: 10.1111/j.0013-9580.2004.451010.x. PMID: 14706043
Inheritance of photosensitivity.
Waltz S, Stephani U
Neuropediatrics 2000 Apr;31(2):82-5. doi: 10.1055/s-2000-7478. PMID: 10832582
Incidence of photosensitive epilepsy: a prospective national study.
Quirk JA, Fish DR, Smith SJ, Sander JW, Shorvon SD, Allen PJ
Electroencephalogr Clin Neurophysiol 1995 Oct;95(4):260-7. doi: 10.1016/0013-4694(95)00118-i. PMID: 8529557
The different patterns of the photoparoxysmal response--a genetic study.
Waltz S, Christen HJ, Doose H
Electroencephalogr Clin Neurophysiol 1992 Aug;83(2):138-45. doi: 10.1016/0013-4694(92)90027-f. PMID: 1378379

Diagnosis

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.
Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J
Epileptic Disord 2023 Feb;25(1):80-86. Epub 2023 Apr 17 doi: 10.1002/epd2.20052. PMID: 36946369
Electroencephalographic features of benign adult familial myoclonic epilepsy.
Toyota T, Akamatsu N, Tanaka A, Tsuji S, Uozumi T
Clin Neurophysiol 2014 Feb;125(2):250-4. Epub 2013 Sep 4 doi: 10.1016/j.clinph.2013.08.002. PMID: 24011985
Encephalopathy secondary to imipenem therapy.
Fernández-Torre JL, Velasco M, Gutiérrez R, Fernández-Sampedro M
Clin EEG Neurosci 2004 Apr;35(2):100-3. doi: 10.1177/155005940403500210. PMID: 15164819
Photosensitivity: the magnitude of the problem.
de Bittencourt PR
Epilepsia 2004;45 Suppl 1:30-4. doi: 10.1111/j.0013-9580.2004.451010.x. PMID: 14706043
Inheritance of photosensitivity.
Waltz S, Stephani U
Neuropediatrics 2000 Apr;31(2):82-5. doi: 10.1055/s-2000-7478. PMID: 10832582

Therapy

Electroencephalographic features of benign adult familial myoclonic epilepsy.
Toyota T, Akamatsu N, Tanaka A, Tsuji S, Uozumi T
Clin Neurophysiol 2014 Feb;125(2):250-4. Epub 2013 Sep 4 doi: 10.1016/j.clinph.2013.08.002. PMID: 24011985
Encephalopathy secondary to imipenem therapy.
Fernández-Torre JL, Velasco M, Gutiérrez R, Fernández-Sampedro M
Clin EEG Neurosci 2004 Apr;35(2):100-3. doi: 10.1177/155005940403500210. PMID: 15164819
Photosensitivity: the magnitude of the problem.
de Bittencourt PR
Epilepsia 2004;45 Suppl 1:30-4. doi: 10.1111/j.0013-9580.2004.451010.x. PMID: 14706043
Photoparoxysmal response on eye closure in photosensitive patients.
de Falco FA, Roberti R, Florio C, Franzese G
Acta Neurol (Napoli) 1992 Aug-Dec;14(4-6):290-6. PMID: 1293972
EEG observations during combined haloperidol-lithium treatment.
Addy RO, Foliart RH, Saran AS, Schubert DS
Biol Psychiatry 1986 Feb;21(2):170-6. doi: 10.1016/0006-3223(86)90144-7. PMID: 3081054

Prognosis

Electroclinical Features and Long-Term Photosensitivity Outcome in Patients With Photoparoxysmal Response With Epilepsy.
Niu Y, Gong P, Jiao X, Xu Z, Zhou Z, Zhang Y, Qin J, Yang Z
Pediatr Neurol 2023 Oct;147:88-94. Epub 2023 Jul 26 doi: 10.1016/j.pediatrneurol.2023.07.013. PMID: 37598572
Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.
Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J
Epileptic Disord 2023 Feb;25(1):80-86. Epub 2023 Apr 17 doi: 10.1002/epd2.20052. PMID: 36946369
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free PMC Article
Long-term follow-up of an individual with vitamin B6-dependent seizures.
Ohtsuka Y, Hattori J, Ishida T, Ogino T, Oka E
Dev Med Child Neurol 1999 Mar;41(3):203-6. doi: 10.1017/s0012162299000390. PMID: 10210253
Incidence of photosensitive epilepsy: a prospective national study.
Quirk JA, Fish DR, Smith SJ, Sander JW, Shorvon SD, Allen PJ
Electroencephalogr Clin Neurophysiol 1995 Oct;95(4):260-7. doi: 10.1016/0013-4694(95)00118-i. PMID: 8529557

Clinical prediction guides

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.
Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J
Epileptic Disord 2023 Feb;25(1):80-86. Epub 2023 Apr 17 doi: 10.1002/epd2.20052. PMID: 36946369
Consistent topography and amplitude symmetry are more typical than morphology of epileptiform discharges in genetic generalized epilepsy.
Seneviratne U, Cook M, D'Souza W
Clin Neurophysiol 2016 Feb;127(2):1138-1146. Epub 2015 Sep 28 doi: 10.1016/j.clinph.2015.08.019. PMID: 26452310
Does photoparoxysmal response in children represent provoked seizure? Evidence from simultaneous motor task during EEG.
Fallah A, RamachandranNair R
Clin Neurol Neurosurg 2009 Feb;111(2):147-50. Epub 2008 Nov 1 doi: 10.1016/j.clineuro.2008.09.019. PMID: 18977586
Evaluation of carisbamate, a novel antiepileptic drug, in photosensitive patients: an exploratory, placebo-controlled study.
Trenité DG, French JA, Hirsch E, Macher JP, Meyer BU, Grosse PA, Abou-Khalil BW, Rosenfeld WE, van Gerven J, Novak GP, Parmeggiani L, Schmidt B, Gibson D, Guerrini R
Epilepsy Res 2007 May;74(2-3):193-200. Epub 2007 Apr 19 doi: 10.1016/j.eplepsyres.2007.03.012. PMID: 17448639
EEG observations during combined haloperidol-lithium treatment.
Addy RO, Foliart RH, Saran AS, Schubert DS
Biol Psychiatry 1986 Feb;21(2):170-6. doi: 10.1016/0006-3223(86)90144-7. PMID: 3081054

Recent systematic reviews

The 'Photosensitivity Model' is (also) a model for focal (partial) seizures.
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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    • Photoparoxysmal response 2
      Photoparoxysmal response 2
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      Molecular Motor Proteins
      Proteins that are involved in or cause CELL MOVEMENT such as the rotary structures (flagellar motor) or the structures whose movement is directed along cytoskeletal filaments ...<br/>Year introduced: 2007(1999)
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