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Enlarged flash visual evoked potentials

MedGen UID:
867200
Concept ID:
C4021558
Finding
Synonym: High flash visual evoked potentials
 
HPO: HP:0008045

Conditions with this feature

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.

Recent clinical studies

Etiology

Wang T, Ma S, Guan Y, Du J, Liu G, Zhao X
J Clin Neurosci 2016 May;27:63-7. Epub 2016 Feb 26 doi: 10.1016/j.jocn.2015.08.036. PMID: 26922509

Diagnosis

Shimizu T, Nakayama Y, Funai A, Morishima R, Hayashi K, Bokuda K, Nakata Y, Isozaki E
Amyotroph Lateral Scler Frontotemporal Degener 2020 Feb;21(1-2):147-149. Epub 2019 Dec 18 doi: 10.1080/21678421.2019.1704015. PMID: 31852262
Wang T, Ma S, Guan Y, Du J, Liu G, Zhao X
J Clin Neurosci 2016 May;27:63-7. Epub 2016 Feb 26 doi: 10.1016/j.jocn.2015.08.036. PMID: 26922509
Lyyra P, Mäkelä H, Hietanen JK, Astikainen P
PLoS One 2014;9(1):e87682. Epub 2014 Jan 30 doi: 10.1371/journal.pone.0087682. PMID: 24498165Free PMC Article
Carboni G, Forma G, Bond AD, Adamus G, Iannaccone A
Doc Ophthalmol 2012 Aug;125(1):63-70. Epub 2012 May 9 doi: 10.1007/s10633-012-9327-0. PMID: 22569848Free PMC Article
Thun-Hohenstein L, Schmitt B, Steinlin H, Martin E, Boltshauser E
Eur J Pediatr 1992 Oct;151(10):779-82. doi: 10.1007/BF01959090. PMID: 1425803

Therapy

Jin J, Allison BZ, Zhang Y, Wang X, Cichocki A
Int J Neural Syst 2014 Dec;24(8):1450027. Epub 2014 Sep 2 doi: 10.1142/S0129065714500270. PMID: 25182191
Fize D, Fabre-Thorpe M, Richard G, Doyon B, Thorpe SJ
Brain Cogn 2005 Nov;59(2):145-58. Epub 2005 Aug 10 doi: 10.1016/j.bandc.2005.06.002. PMID: 16098651
Visani E, Agazzi P, Scaioli V, Giaccone G, Binelli S, Canafoglia L, Panzica F, Tagliavini F, Bugiani O, Avanzini G, Franceschetti S
Clin Neurophysiol 2005 Apr;116(4):895-904. Epub 2005 Jan 13 doi: 10.1016/j.clinph.2004.11.019. PMID: 15792899
Michalski A
Acta Neurobiol Exp (Wars) 1998;58(1):55-64. doi: 10.55782/ane-1998-1259. PMID: 9583188
Heinze HJ, Luck SJ, Mangun GR, Hillyard SA
Electroencephalogr Clin Neurophysiol 1990 Jun;75(6):511-27. doi: 10.1016/0013-4694(90)90138-a. PMID: 1693896

Prognosis

Shimizu T, Nakayama Y, Funai A, Morishima R, Hayashi K, Bokuda K, Nakata Y, Isozaki E
Amyotroph Lateral Scler Frontotemporal Degener 2020 Feb;21(1-2):147-149. Epub 2019 Dec 18 doi: 10.1080/21678421.2019.1704015. PMID: 31852262
Wang T, Ma S, Guan Y, Du J, Liu G, Zhao X
J Clin Neurosci 2016 May;27:63-7. Epub 2016 Feb 26 doi: 10.1016/j.jocn.2015.08.036. PMID: 26922509
Visani E, Agazzi P, Scaioli V, Giaccone G, Binelli S, Canafoglia L, Panzica F, Tagliavini F, Bugiani O, Avanzini G, Franceschetti S
Clin Neurophysiol 2005 Apr;116(4):895-904. Epub 2005 Jan 13 doi: 10.1016/j.clinph.2004.11.019. PMID: 15792899
Thun-Hohenstein L, Schmitt B, Steinlin H, Martin E, Boltshauser E
Eur J Pediatr 1992 Oct;151(10):779-82. doi: 10.1007/BF01959090. PMID: 1425803

Clinical prediction guides

Wang T, Ma S, Guan Y, Du J, Liu G, Zhao X
J Clin Neurosci 2016 May;27:63-7. Epub 2016 Feb 26 doi: 10.1016/j.jocn.2015.08.036. PMID: 26922509
Lyyra P, Mäkelä H, Hietanen JK, Astikainen P
PLoS One 2014;9(1):e87682. Epub 2014 Jan 30 doi: 10.1371/journal.pone.0087682. PMID: 24498165Free PMC Article
Carboni G, Forma G, Bond AD, Adamus G, Iannaccone A
Doc Ophthalmol 2012 Aug;125(1):63-70. Epub 2012 May 9 doi: 10.1007/s10633-012-9327-0. PMID: 22569848Free PMC Article
Thun-Hohenstein L, Schmitt B, Steinlin H, Martin E, Boltshauser E
Eur J Pediatr 1992 Oct;151(10):779-82. doi: 10.1007/BF01959090. PMID: 1425803
Heinze HJ, Luck SJ, Mangun GR, Hillyard SA
Electroencephalogr Clin Neurophysiol 1990 Jun;75(6):511-27. doi: 10.1016/0013-4694(90)90138-a. PMID: 1693896

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