Literature DB >> 25522177

Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

D Gadzicki1, D Döcker2, M Schubach3, M Menzel3, B Schmorl1, F Stellmer4, S Biskup2,3, D Bartholdi2.   

Abstract

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Year:  2014        PMID： 25522177     DOI： 10.1111/cge.12544

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors:  Heather E Olson; Nolwenn Jean-Marçais; Edward Yang; Delphine Heron; Katrina Tatton-Brown; Paul A van der Zwaag; Emilia K Bijlsma; Bryan L Krock; E Backer; Erik-Jan Kamsteeg; Margje Sinnema; Margot R F Reijnders; David Bearden; Amber Begtrup; Aida Telegrafi; Roelineke J Lunsing; Lydie Burglen; Gaetan Lesca; Megan T Cho; Lacey A Smith; Beth R Sheidley; Christelle Moufawad El Achkar; Phillip L Pearl; Annapurna Poduri; Cara M Skraban; Jennifer Tarpinian; Addie I Nesbitt; Dietje E Fransen van de Putte; Claudia A L Ruivenkamp; Patrick Rump; Nicolas Chatron; Isabelle Sabatier; Julitta De Bellescize; Laurent Guibaud; David A Sweetser; Jessica L Waxler; Klaas J Wierenga; Jean Donadieu; Vinodh Narayanan; Keri M Ramsey; Caroline Nava; Jean-Baptiste Rivière; Antonio Vitobello; Frédéric Tran Mau-Them; Christophe Philippe; Ange-Line Bruel; Yannis Duffourd; Laurel Thomas; Stefan H Lelieveld; Janneke Schuurs-Hoeijmakers; Han G Brunner; Boris Keren; Julien Thevenon; Laurence Faivre; Gary Thomas; Christel Thauvin-Robinet
Journal:  Am J Hum Genet       Date:  2018-04-12       Impact factor: 11.025

2.  De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Authors:  Kameryn M Butler; Cristina da Silva; Yuval Shafir; James D Weisfeld-Adams; John J Alexander; Madhuri Hegde; Andrew Escayg
Journal:  Epilepsy Res       Date:  2016-11-06       Impact factor: 3.045

3.  Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.

Authors:  Fatma Kurt Colak; Nilnur Eyerci; Caner Aytekin; Ayse S Eksioglu
Journal:  Mol Syndromol       Date:  2020-04-17

4.  Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

Authors:  D Stern; M T Cho; R Chikarmane; R Willaert; K Retterer; F Kendall; M Deardorff; S Hopkins; E Bedoukian; A Slavotinek; S Schrier Vergano; B Spangler; M McDonald; A McConkie-Rosell; B K Burton; K H Kim; N Oundjian; D Kronn; N Chandy; B Baskin; M J Guillen Sacoto; I M Wentzensen; H M McLaughlin; D McKnight; W K Chung
Journal:  Clin Genet       Date:  2017-01-23       Impact factor: 4.438
  4 in total

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