Literature DB >> 25207107

Evaluation of visual evoked potentials in patient with angelmans syndrome - case report.

Tatjana Knezevic1, Ivana Petronic2, Dejan Nikolic1, Dragana Cirovic2, Vera Krstic2, Sinisa Ducic2, Ljubica Konstantinovic2, Calogero Foti3.   

Abstract

BACKGROUND: Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. CASE REPORT: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs). Our results revealed the presence of severe central afferent dysfunction in both optical pathways.
CONCLUSION: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.

Entities:  

Keywords:  angelman syndrome; children; visual evoked potentials

Year:  2013        PMID: 25207107      PMCID: PMC4115968          DOI: 10.5152/balkanmedj.2013.8280

Source DB:  PubMed          Journal:  Balkan Med J        ISSN: 2146-3123            Impact factor:   2.021


  11 in total

1.  Visual evoked potentials standard (2004).

Authors:  J Vernon Odom; Michael Bach; Colin Barber; Mitchell Brigell; Michael F Marmor; Alma Patrizia Tormene; Graham E Holder
Journal:  Doc Ophthalmol       Date:  2004-03       Impact factor: 2.379

2.  Neuroscience: Angelman syndrome connections.

Authors:  Peter Scheiffele; Asim A Beg
Journal:  Nature       Date:  2010-12-16       Impact factor: 49.962

3.  Predictive value of assessment of disc-radicular conflict of the cervical segment by somatosensory evoked potentials.

Authors:  M Titlic; K Kolic; F Fiorentini; Z Josipovic-Jelic
Journal:  Bratisl Lek Listy       Date:  2009       Impact factor: 1.278

4.  Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

Authors:  Cristina Camprubí; Miriam Guitart; Elisabeth Gabau; Maria Dolors Coll; Sergi Villatoro; Silvestre Oltra; Monica Roselló; Irene Ferrer; Sandra Monfort; Carmen Orellana; Francisco Martínez
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

5.  The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

Authors:  Paul L Greer; Rikinari Hanayama; Brenda L Bloodgood; Alan R Mardinly; David M Lipton; Steven W Flavell; Tae-Kyung Kim; Eric C Griffith; Zachary Waldon; Rene Maehr; Hidde L Ploegh; Shoaib Chowdhury; Paul F Worley; Judith Steen; Michael E Greenberg
Journal:  Cell       Date:  2010-03-05       Impact factor: 41.582

Review 6.  Neurological aspects of the Angelman syndrome.

Authors:  Charles A Williams
Journal:  Brain Dev       Date:  2005-03       Impact factor: 1.961

7.  Visual evoked potentials to red-green stimulation in schoolchildren.

Authors:  Manca Tekavcic Pompe; Branka Stirn Kranjc; Jelka Brecelj
Journal:  Vis Neurosci       Date:  2006 May-Aug       Impact factor: 3.241

Review 8.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

Review 9.  Angelman syndrome: a review of the clinical and genetic aspects.

Authors:  J Clayton-Smith; L Laan
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

10.  [Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].

Authors:  M García Ramírez; B Csanyi; J Martínez Antón; M Delgado Marqués; E Bauzano Poley
Journal:  An Pediatr (Barc)       Date:  2008-09       Impact factor: 1.500

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