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

OBJECTIVE: To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODS: Patie..

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

Objective: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to est..

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

Somatic mutation of the lissencephaly-1 gene is a cause of subcortical band heterotopia ("double cortex"). The severity of the phe..

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

Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% morta..

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

PURPOSE: To describe clinical and EEG phenotypes of a family with an unusual familial epilepsy syndrome characterized by myoclonus..

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

OBJECTIVE: To determine clinical and EEG features that might help identify patients with epilepsy harboring small, intrinsically e..

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

We report a 44-year-old with progressive quadriparesis due to a dumbbell malignant peripheral nerve sheath tumour (MPNST) of the s..

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

Focal cortical dysplasia is a common cortical malformation and an important cause of epilepsy. There is evidence for shared molecu..