Katja Boysen

Neuronal Ceroid Lipofuscinosis type 2: an Australian case series

Alexandra M Johnson, Simone Mandelstam, Ian Andrews, Katja Boysen, Joy Yaplito-Lee, Michael Fietz, Lakshmi Nagarajan, Victoria Rodriguez-Casero, Monique M Ryan, Nicholas Smith, Ingrid E Scheffer, Carolyn Ellaway

Journal article  |  2020  |  JOURNAL OF PAEDIATRICS AND CHILD HEALTH

AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in childr..

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

Ingrid E Scheffer, Katja E Boysen, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Anne M Rochtus, Yuet-Ping Yuen, Gabriel Ronen, Wai Km Chak, Deepak Gill, Annapurna Poduri, Heather C Mefford

Journal article  |  2019  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Epilepsy of infancy with migrating focal seizures (EIMFS), one of the most severe developmental and epileptic encephalopathy syndr..

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Journal article  |  2019  |  ANNALS OF NEUROLOGY

OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encepha..

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, et al.

Journal article  |  2019  |  NATURE COMMUNICATIONS

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes...

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018)

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betul Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Heron, Caroline Nava, Stephanie Valence, Julien Buratti, Christina R Fagerberg, Kristina P Soerensen, Maria Kibaek, et al.

Journal article  |  2019  |  AMERICAN JOURNAL OF HUMAN GENETICS

(The American Journal of Human Genetics 103, 666–678; November 1, 2018) In the version of this article originally published online..

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, et al.

Journal article  |  2018  |  NATURE COMMUNICATIONS

The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome..

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betuel Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Heron, Caroline Nava, Stephanie Valence, Julien Buratti, Christina R Fagerberg, Kristina P Soerensen, Maria Kibaek, et al.

Journal article  |  2018  |  AMERICAN JOURNAL OF HUMAN GENETICS

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early ch..

Inhibitor of cysteine proteases is critical for motility and infectivity of Plasmodium sporozoites.

Katja E Boysen, Kai Matuschewski

Journal article  |  2013  |  mBio

UNLABELLED: Malaria is transmitted when motile sporozoites are injected into the dermis by an infected female Anopheles mosquito. ..

Arrested oocyst maturation in Plasmodium parasites lacking type II NADH:ubiquinone dehydrogenase.

Katja E Boysen, Kai Matuschewski

Journal article  |  2011  |  J Biol Chem

The Plasmodium mitochondrial electron transport chain has received considerable attention as a potential target for new antimalari..

Expression of P. falciparum var Genes Involves Exchange of the Histone Variant H2A.Z at the Promoter

Michaela Petter, Chin Chin Lee, Timothy J Byrne, Katja E Boysen, Jennifer Volz, Stuart A Ralph, Alan F Cowman, Graham V Brown, Michael F Duffy

Journal article  |  2011  |  PLOS PATHOGENS

Plasmodium falciparum employs antigenic variation to evade the human immune response by switching the expression of different vari..