Ingrid Scheffer

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, et al.

Journal article  |  2023  |  Am J Hum Genet

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to ..

The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies.

Ingrid E Scheffer

Journal article  |  2023  |  Epilepsia

Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.

Da Zhao, Paulo Pinares-Garcia, Chaseley E McKenzie, Lauren E Bleakley, Ian C Forster, Vickie HY Wong, Christine TO Nguyen, Ingrid E Scheffer, Christopher A Reid, Bang V Bui

Journal article  |  2023  |  J Neurosci

Pathogenic variants in HCN1 are associated with a range of epilepsy syndromes including a developmental and epileptic encephalopat..

Genes4Epilepsy: An epilepsy gene resource.

Karen L Oliver, Ingrid E Scheffer, Mark F Bennett, Bronwyn E Grinton, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2023  |  Epilepsia

OBJECTIVE: "How many epilepsy genes are there?" is a frequently asked question. We sought to (1) provide a curated list of genes t..

Differential diagnosis of familial adult myoclonic epilepsy

Betul Baykan, Silvana Franceschetti, Laura Canafoglia, Gianpiero L Cavalleri, Roberto Michelucci, Ingrid E Scheffer

Journal article  |  2023  |  EPILEPSIA

OBJECTIVE: Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generaliz..

WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk.

Karen L Oliver, Marina Trivisano, Simone A Mandelstam, Angela De Dominicis, David I Francis, Timothy E Green, Alison M Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A Myers, Richard J Leventer, Gaetan Lesca, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, et al.

Journal article  |  2023  |  Epilepsia

OBJECTIVE: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also kno..

Indications and prescribing patterns of antiseizure medications in children in New Zealand

Shayma Ali, James Stanley, Suzanne Davis, Ngaire Keenan, Ingrid E Scheffer, Lynette G Sadleir

Journal article  |  2023  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AIM: To determine indications and prescribing patterns for antiseizure medications (ASMs) in children by age, sex, and socioeconom..

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.

Alice M Donnan, Amy L Schneider, Sophie Russ-Hall, Leonid Churilov, Ingrid E Scheffer

Journal article  |  2023  |  Neurology

BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilep..

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S Møller, Christina D Fenger, Jens Erik Klint Nielsen, Anita N Datta, Kathleen M Gorman, Mary D King, Natalia D Linhares, et al.

Journal article  |  2023  |  Neurology

BACKGROUND AND OBJECTIVES: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopme..

Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome.

Katherine B Howell, Sophie Butcher, Amy L Schneider, Sophie Russ-Hall, Pearl R Muzariri, Rachel Kerr, Isabella Overmars, Michael Hayman, Andrew J Kornberg, Margie Danchin, Nigel W Crawford, Ingrid E Scheffer

Journal article  |  2023  |  Neurology

BACKGROUND AND OBJECTIVES: To determine the frequency and spectrum of complications of influenza infection in individuals with SCN..