Renate Kalnins

SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

Danique RM Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams, Saskia M Maas, Alice S Brooks, Grazia MS Mancini, Ingrid MBH van de Laar, Johanna M van Hagen, Tyson L Ware, Richard I Webster, Stephen Malone, Samuel F Berkovic, Renate M Kalnins, et al.

Journal article  |  2019  |  Neurology

SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic Spectrum

DRM Vlaskamp, BJ Shaw, R Burgess, D Mei, M Montomoli, H Xie, CT Meyers, B Mark, D Williams, SM Maas, AS Brooks, GMS Verheijen-Mancini, IMBH de Graaf-Van de Laar, AM van Hagen, T Ware, R Webster, S Malone, SF Berkovic, RM Kalnins, CMA van Ravenswaaij-Arts, et al.

Conference Proceedings  |  2018  |  EPILEPSIA

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2018  |  Neurology Genetics

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

John A Damiano, Hongdo Do, Ezgi Ozturk, Rosemary Burgess, Renate Kalnins, Nigel C Jones, Alexander Dobrovic, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2017  |  Epileptic Disorders

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer

Journal article  |  2017  |  Pediatrics

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

Lynette G Sadleir, Sarah Paterson, Katherine R Smith, Natalie Redshaw, Annemarei Ranta, Renate Kalnins, Samuel F Berkovic, Melanie Bahlo, Michael S Hildebrand, Ingrid E Scheffer

Journal article  |  2015  |  Epilepsy Research

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia

A Simon Harvey, Simone A Mandelstam, Wirginia J Maixner, Richard J Leventer, Mira Semmelroch, Duncan MacGregor, Renate M Kalnins, Yuliya Perchyonok, Gregory J Fitt, Sarah Barton, Michael J Kean, Gavin CA Fabinyi, Graeme D Jackson

Journal article  |  2015  |  Neurology

Radiation induced malignant peripheral nerve sheath tumour of the second cervical nerve

Bryden Dawes, Jonathan Clark, Stephen T Byrne, Renate Kalnins, Augusto Gonzalvo, Myron Rogers

Journal article  |  2014  |  Journal of Clinical Neuroscience

Waldenstrom macroglobulinaemia and intestinal lymphangiectasia

Rachel E Cooke, Renate M Kalnins, Wai Khoon Ho

Journal article  |  2014  |  British Journal of Haematology

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

Richard J Leventer, Floor E Jansen, Simone A Mandelstam, Alice Ho, Ismail Mohamed, Harvey B Sarnat, Mitsuhiro Kato, Tatsuya Fukasawa, Hirotomo Saitsu, Naomichi Matsumoto, Masayuki Itoh, Renate M Kalnins, Chung W Chow, A Simon Harvey, Graeme D Jackson, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2014  |  Epilepsia