Literature DB >> 3236364

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

J Christodoulou1, R K Hall, S Menahem, I J Hopkins, J G Rogers.   

Abstract

A family is described with six members affected by a syndrome of epilepsy, dementia, and amelogenesis imperfecta (Kohlschütter's syndrome). An autosomal recessive pattern of inheritance is established for this disorder.

Entities:  

Mesh：

Year:  1988        PMID： 3236364      PMCID： PMC1051610          DOI： 10.1136/jmg.25.12.827

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  An in-vitro study of enamel protein degradation in developing bovine enamel.

Authors:  J Menanteau; D Mitre; S Raher
Journal:  Arch Oral Biol       Date:  1986       Impact factor: 2.633

2.  Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia.

Authors:  A Kohlschütter; D Chappuis; C Meier; O Tönz; F Vassella; N Herschkowitz
Journal:  Helv Paediatr Acta       Date:  1974-10

3.  Hereditary amelogenesis imperfecta. I. Epidemiology and clinical classification in a Swedish child population.

Authors:  S Sundell; G Koch
Journal:  Swed Dent J       Date:  1985

4.  Analysis of a kindred with amelogenesis imperfecta.

Authors:  J T Wright
Journal:  J Oral Pathol       Date:  1985-05
  4 in total
  5 in total

1.  Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Authors:  Anna Schossig; Nicole I Wolf; Christine Fischer; Maria Fischer; Gernot Stocker; Stephan Pabinger; Andreas Dander; Bernhard Steiner; Otmar Tönz; Dieter Kotzot; Edda Haberlandt; Albert Amberger; Barbara Burwinkel; Katharina Wimmer; Christine Fauth; Caspar Grond-Ginsbach; Martin J Koch; Annette Deichmann; Christof von Kalle; Claus R Bartram; Alfried Kohlschütter; Zlatko Trajanoski; Johannes Zschocke
Journal:  Am J Hum Genet       Date:  2012-03-15       Impact factor: 11.025

2.  A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

Authors:  Adi Mory; Efrat Dagan; Barbara Illi; Philippe Duquesnoy; Shikma Mordechai; Ishai Shahor; Sveva Romani; Nivin Hawash-Moustafa; Hanna Mandel; Enza M Valente; Serge Amselem; Ruth Gershoni-Baruch
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

3.  Kohlschütter-Tönz Syndrome - Report of an additional case.

Authors:  Wilfredo A González-Arriagada; Román Carlos-Bregni; Elisa Contreras; Oslei P Almeida; Marcio A Lopes
Journal:  J Clin Exp Dent       Date:  2013-04-01

4.  The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.

Authors:  Hakbong Lee; Hanbin Jeong; Joonho Choe; Youngsoo Jun; Chunghun Lim; Changwook Lee
Journal:  Sci Rep       Date:  2017-06-21       Impact factor: 4.379

5.  Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

Authors:  Arianna Tucci; Eleanna Kara; Anna Schossig; Nicole I Wolf; Vincent Plagnol; Katherine Fawcett; Coro Paisán-Ruiz; Matthew Moore; Dena Hernandez; Sebastiano Musumeci; Michael Tennison; Raoul Hennekam; Silvia Palmeri; Alessandro Malandrini; Salmo Raskin; Dian Donnai; Corina Hennig; Andreas Tzschach; Roel Hordijk; Thomas Bast; Katharina Wimmer; Chien-Ning Lo; Simon Shorvon; Heather Mefford; Evan E Eichler; Roger Hall; Ian Hayes; John Hardy; Andrew Singleton; Johannes Zschocke; Henry Houlden
Journal:  Hum Mutat       Date:  2012-11-27       Impact factor: 4.878
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.