Literature DB >> 26792009

Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.

Giovanna Marchese1,2, Francesca Rizzo1, Anna Guacci1, Alessandro Weisz3,4, Giangennaro Coppola5.   

Abstract

Entities:  

Keywords:  EHMT1; KCNQ2; Kleefstra syndrome; Next generation sequencing; Whole exome sequencing

Mesh：

Substances：

Year:  2016        PMID： 26792009     DOI： 10.1007/s10072-016-2482-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  8 in total

1.  Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Authors:  Tjitske Kleefstra; Jamie M Kramer; Kornelia Neveling; Marjolein H Willemsen; Tom S Koemans; Lisenka E L M Vissers; Willemijn Wissink-Lindhout; Michaela Fenckova; Willem M R van den Akker; Nael Nadif Kasri; Willy M Nillesen; Trine Prescott; Robin D Clark; Koenraad Devriendt; Jeroen van Reeuwijk; Arjan P M de Brouwer; Christian Gilissen; Huiqing Zhou; Han G Brunner; Joris A Veltman; Annette Schenck; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2012-06-21       Impact factor: 11.025

2.  Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Authors:  Tjitske Kleefstra; Han G Brunner; Jeanne Amiel; Astrid R Oudakker; Willy M Nillesen; Alex Magee; David Geneviève; Valérie Cormier-Daire; Hilde van Esch; Jean-Pierre Fryns; Ben C J Hamel; Erik A Sistermans; Bert B A de Vries; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2006-06-13       Impact factor: 11.025

3.  A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Authors:  Andreas Rump; Laura Hildebrand; Andreas Tzschach; Reinhard Ullmann; Evelin Schrock; Diana Mitter
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

4.  Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Authors:  T Kleefstra; M Smidt; M J G Banning; A R Oudakker; H Van Esch; A P M de Brouwer; W Nillesen; E A Sistermans; B C J Hamel; D de Bruijn; J-P Fryns; H G Yntema; H G Brunner; B B A de Vries; H van Bokhoven
Journal:  J Med Genet       Date:  2005-04       Impact factor: 6.318

5.  Lack of pathogenic mutations in six patients with MMPSI.

Authors:  Maria Rosaria De Filippo; Francesca Rizzo; Giovanna Marchese; Giorgio Giurato; Giovanni Nassa; Maria Ravo; Roberta Tarallo; Erica Pironti; Marilena Vecchi; Giovanni Crichiutti; Giorgio Capizzi; Alberto Verrotti; Alessandro Weisz; Giangennaro Coppola
Journal:  Epilepsy Res       Date:  2013-11-16       Impact factor: 3.045

6.  Update on Kleefstra Syndrome.

Authors:  M H Willemsen; A T Vulto-van Silfhout; W M Nillesen; W M Wissink-Lindhout; H van Bokhoven; N Philip; E M Berry-Kravis; U Kini; C M A van Ravenswaaij-Arts; B Delle Chiaie; A M M Innes; G Houge; T Kosonen; K Cremer; M Fannemel; A Stray-Pedersen; W Reardon; J Ignatius; K Lachlan; C Mircher; P T J M Helderman van den Enden; M Mastebroek; P E Cohn-Hokke; H G Yntema; S Drunat; T Kleefstra
Journal:  Mol Syndromol       Date:  2012-01-24

7.  Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

Authors:  Charlotte Dalen Meurs-van der Schoor; Mirjam van Weissenbruch; Marjan van Kempen; Marianna Bugiani; Eleonora Aronica; Hanneke Ronner; R Jeroen Vermeulen
Journal:  Front Pediatr       Date:  2014-12-19       Impact factor: 3.418

8.  Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Authors:  Eva Maria Christina Schwaibold; Mateja Smogavec; Elke Hobbiebrunken; Lorenz Winter; Barbara Zoll; Peter Burfeind; Knut Brockmann; Silke Pauli
Journal:  Mol Cytogenet       Date:  2014-10-23       Impact factor: 2.009
  8 in total
  2 in total

1.  Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.

Authors:  Maria Virginia Soldovieri; Paolo Ambrosino; Ilaria Mosca; Michela De Maria; Edoardo Moretto; Francesco Miceli; Alessandro Alaimo; Nunzio Iraci; Laura Manocchio; Alessandro Medoro; Maria Passafaro; Maurizio Taglialatela
Journal:  Sci Rep       Date:  2016-12-01       Impact factor: 4.379

Review 2.  The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.

Authors:  Britt Mossink; Moritz Negwer; Dirk Schubert; Nael Nadif Kasri
Journal:  Cell Mol Life Sci       Date:  2020-12-02       Impact factor: 9.261
  2 in total

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