A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Am J Hum Genet
.
2018 Oct 4;103(4):631.
doi: 10.1016/j.ajhg.2018.09.002.
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
;
DDD Study
;
Jean Donadieu
,
Vinodh Narayanan
,
Keri M Ramsey
;
C4RCD Research Group
;
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
PMID:
30290155
PMCID:
PMC6174321
DOI:
10.1016/j.ajhg.2018.09.002
No abstract available
Publication types
Published Erratum
Grants and funding
R01 DK112844/DK/NIDDK NIH HHS/United States
R01 DK114855/DK/NIDDK NIH HHS/United States