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

Heather E. Olson, Nolwenn Jean-Marcais, 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. SmithBeth 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 Riviere, Antonio Vitobello, Frederic Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Han G. Brunner, DDD Study; C4RCD Res Grp, Christel Thauvin-Robinet*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

21 Citations (Web of Science)
Original languageEnglish
Pages (from-to)995-1007
Number of pages13
JournalAmerican Journal of Human Genetics
Volume102
Issue number5
DOIs
Publication statusPublished - 3 May 2018

Keywords

  • INTELLECTUAL DISABILITY
  • MENDELIAN DISORDERS
  • CLINICAL EPILEPSY
  • MUTATIONS
  • DISEASE
  • APOPTOSIS
  • PHENOTYPE
  • DIAGNOSIS
  • PROTEINS
  • GENETICS
  • Cerebellar Diseases/genetics
  • Mutation, Missense/genetics
  • Humans
  • Child, Preschool
  • Infant
  • Male
  • Epilepsy, Generalized/genetics
  • Phenotype
  • Age of Onset
  • Facies
  • Female
  • Heterozygote
  • Infant, Newborn
  • Vesicular Transport Proteins/genetics

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