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Photoparoxysmal response 3(PPR3)

MedGen UID:
372169
Concept ID:
C1835966
Disease or Syndrome
Synonyms: Photoparoxysmal response with or without myoclonic epilepsy; PPR3
 
Monarch Initiative: MONDO:0012305
OMIM®: 609573

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
van Win OA, Barnes JG, Ferrier CF, Booth F, Prasad AN, Kasteleijn-Nolst Trenite DGA
Epilepsy Behav 2020 Jun;107:107046. Epub 2020 Apr 15 doi: 10.1016/j.yebeh.2020.107046. PMID: 32304987
Uygur Kucukseymen E, Genc F, Dogan B, Koctekin B, Erdal A, Bicer Gomceli Y
Epileptic Disord 2019 Apr 1;21(2):177-184. doi: 10.1684/epd.2019.1043. PMID: 30945640
Hanganu A, Groppa SA, Deuschl G, Siebner H, Moeller F, Siniatchkin M, Stephani U, Groppa S
Brain Topogr 2015 Sep;28(5):702-709. Epub 2014 Feb 1 doi: 10.1007/s10548-014-0353-y. PMID: 24487625

Diagnosis

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
van Win OA, Barnes JG, Ferrier CF, Booth F, Prasad AN, Kasteleijn-Nolst Trenite DGA
Epilepsy Behav 2020 Jun;107:107046. Epub 2020 Apr 15 doi: 10.1016/j.yebeh.2020.107046. PMID: 32304987
Uygur Kucukseymen E, Genc F, Dogan B, Koctekin B, Erdal A, Bicer Gomceli Y
Epileptic Disord 2019 Apr 1;21(2):177-184. doi: 10.1684/epd.2019.1043. PMID: 30945640
Strigaro G, Falletta L, Varrasi C, Rothwell JC, Cantello R
Epilepsia 2015 Nov;56(11):1828-35. Epub 2015 Sep 23 doi: 10.1111/epi.13190. PMID: 26395125
Martin JE, Cheng-Hakimian A
Neurodiagn J 2013 Jun;53(2):169-78. PMID: 23833843

Therapy

van Win OA, Barnes JG, Ferrier CF, Booth F, Prasad AN, Kasteleijn-Nolst Trenite DGA
Epilepsy Behav 2020 Jun;107:107046. Epub 2020 Apr 15 doi: 10.1016/j.yebeh.2020.107046. PMID: 32304987
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
Strigaro G, Falletta L, Varrasi C, Rothwell JC, Cantello R
Epilepsia 2015 Nov;56(11):1828-35. Epub 2015 Sep 23 doi: 10.1111/epi.13190. PMID: 26395125

Prognosis

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
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

Clinical prediction guides

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
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
Uygur Kucukseymen E, Genc F, Dogan B, Koctekin B, Erdal A, Bicer Gomceli Y
Epileptic Disord 2019 Apr 1;21(2):177-184. doi: 10.1684/epd.2019.1043. PMID: 30945640
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

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

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      Photoparoxysmal response 3
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      Zinc Finger E-box-Binding Homeobox 1
      A transcription factor characterized by N-terminal and C-terminal CYS2-HIS2 ZINC FINGERS separated by a homeobox. It represses the expression of E-CADHERIN to induce the EPITH...<br/>Year introduced: 2017
      MeSH
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      Zinc Finger E-box Binding Homeobox 2
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