Article
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
American journal of human genetics - 3 May 2018
Olson Heather E, Jean-Marçais Nolwenn, Yang Edward, Heron Delphine, Tatton-Brown Katrina, van der Zwaag Paul A, Bijlsma Emilia K, Krock Bryan L, Backer E, Kamsteeg Erik-Jan, Sinnema Margje, Reijnders Margot R F, Bearden David, Begtrup Amber, Telegrafi Aida, Lunsing Roelineke J, Burglen Lydie, Lesca Gaetan, Cho Megan T, Smith Lacey A, Sheidley Beth R, Moufawad El Achkar Christelle, Pearl Phillip L, Poduri Annapurna, Skraban Cara M, Tarpinian Jennifer, Nesbitt Addie I, Fransen van de Putte Dietje E, Ruivenkamp Claudia A L, Rump Patrick, Chatron Nicolas, Sabatier Isabelle, De Bellescize Julitta, Guibaud Laurent, Sweetser David A, Waxler Jessica L, Wierenga Klaas J, Donadieu Jean, Narayanan Vinodh, Ramsey Keri M, Nava Caroline, Rivière Jean-Baptiste, Vitobello Antonio, Tran Mau-Them Frédéric, Philippe Christophe, Bruel Ange-Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan H, Schuurs-Hoeijmakers Janneke, Brunner Han G, Keren Boris, Thevenon Julien, Faivre Laurence, Thomas Gary, Thauvin-Robinet Christel
Abstract excerpt
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.)....
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