Literature DB >> 21507589

Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.

Shuei Watanabe1, Akitoshi Murayama, Kazuhiro Haginoya, Soichiro Tanaka, Noriko Togashi, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hideto Yoshikawa, Rumiko Takayama, Keisuke Wakusawa, Satoru Kobayashi, Ikuko Sato, Akira Onuma.   

Abstract

Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Mesh：

Year:  2011        PMID： 21507589     DOI： 10.1016/j.braindev.2011.03.010

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  5 in total

Review 1.  Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Authors:  Wei-Liang Liu; Zhi-Xu He; Fang Li; Rong Ai; Hong-Wei Ma
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

2.  Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.

Authors:  Jung Min Ko; Byung Chan Lim; Ki Joong Kim; Yong Seung Hwang; Hye Won Ryu; Jung Ho Lee; Jon Su Kim; Jong-Hee Chae
Journal:  Childs Nerv Syst       Date:  2013-02-12       Impact factor: 1.475

3.  Diagnostic implications of genetic copy number variation in epilepsy plus.

Authors:  Antonietta Coppola; Elena Cellini; Hannah Stamberger; Elmo Saarentaus; Valentina Cetica; Dennis Lal; Tania Djémié; Magdalena Bartnik-Glaska; Berten Ceulemans; J Helen Cross; Tine Deconinck; Salvatore De Masi; Thomas Dorn; Renzo Guerrini; Dorotha Hoffman-Zacharska; Frank Kooy; Lieven Lagae; Nicholas Lench; Johannes R Lemke; Ersilia Lucenteforte; Francesca Madia; Heather C Mefford; Deborah Morrogh; Peter Nuernberg; Aarno Palotie; An-Sofie Schoonjans; Pasquale Striano; Elzbieta Szczepanik; Anna Tostevin; Joris R Vermeesch; Hilde Van Esch; Wim Van Paesschen; Jonathan J Waters; Sarah Weckhuysen; Federico Zara; Peter De Jonghe; Sanjay M Sisodiya; Carla Marini
Journal:  Epilepsia       Date:  2019-03-13       Impact factor: 5.864

4.  Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Authors:  Ozgul Bulut; Zeynep Ince; Umut Altunoglu; Sukran Yildirim; Asuman Coban
Journal:  Case Rep Genet       Date:  2017-12-03

5.  The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

Authors:  Maria Pia Leone; Pietro Palumbo; Orazio Palumbo; Ester Di Muro; Massimiliano Chetta; Nicola Laforgia; Nicoletta Resta; Alessandro Stella; Stefano Castellana; Tommaso Mazza; Marco Castori; Massimo Carella; Nenad Bukvic
Journal:  Ital J Pediatr       Date:  2020-05-27       Impact factor: 2.638
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.