Ingrid Scheffer

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M Muir, Jessica Giannelli, Rebecca O Littlejohn, Elizabeth R Roeder, Berkley Schmidt, William G Wilson, Elysa J Marco, Kazuhiro Iwama, Satoko Kumada, Tiziana Pisano, Carmen Barba, Annalisa Vetro, Eva H Brilstra, Richard H Jaarsveld, Naomichi Matsumoto, et al.

Journal article  |  2021  |  ANNALS OF NEUROLOGY

OBJECTIVE: The MAST family of microtubule-associated serine-threonine kinases (STKs) have distinct expression patterns in the deve..

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.

Gemma L Carvill, Sandra Jansen, Amy Lacroix, Matthew Zemel, Michele Mehaffey, Petra De Vries, Han G Brunner, Ingrid E Scheffer, Bert BA De Vries, Lisenka ELM Vissers, Heather C Mefford

Journal article  |  2021  |  Dev Med Child Neurol

AIM: To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in int..

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Annalisa Vetro, Hang N Nielsen, Rikke Holm, Robert F Hevner, Elena Parrini, Zoe Powis, Rikke S Møller, Cristina Bellan, Alessandro Simonati, Gaétan Lesca, Katherine L Helbig, Elizabeth E Palmer, Davide Mei, Elisa Ballardini, Arie Van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J Curry, Gregory Costain, et al.

Journal article  |  2021  |  Brain

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-su..

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

Duyen H Pham, Melissa R Pitman, Raman Kumar, Lachlan A Jolly, Renee Schulz, Alison E Gardner, Rebekah de Nys, Sarah E Heron, Mark A Corbett, Kavitha Kothur, Deepak Gill, Sulekha Rajagopalan, Kristy L Kolc, Benjamin J Halliday, Stephen P Robertson, Brigid M Regan, Heidi E Kirsch, Samuel F Berkovic, Ingrid E Scheffer, Stuart M Pitson, et al.

Journal article  |  2021  |  HUMAN MUTATION

PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pat..

Severe speech impairment is a distinguishing feature of FOXP1-related disorder

Ruth O Braden, David J Amor, Simon E Fisher, Cristina Mei, Candace T Myers, Heather Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C Swanson, Himanshu Goel, Ingrid E Scheffer, Angela T Morgan

Journal article  |  2021  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AIM: To delineate the speech and language phenotype of a cohort of individuals with FOXP1-related disorder. METHOD: We administere..

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E Motelow, Gundula Povysil, Ryan S Dhindsa, Kate E Stanley, Andrew S Allen, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M Neale, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic vari..

Seizures in Sotos syndrome: Phenotyping in 49 patients

Olivier Fortin, Christian Vincelette, Afsheen Q Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E Scheffer, Jun Lu, Kellie Davis, Kenneth A Myers

Journal article  |  2021  |  EPILEPSIA OPEN

We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly..

The Australian Academy of Health and Medical Sciences: an authoritative, independent voice in the Australian landscape

Ingrid E Scheffer, Ian H Frazer

Journal article  |  2021  |  MEDICAL JOURNAL OF AUSTRALIA

Loss-of-function variants in K(v)11.1 cardiac channels as a biomarker for SUDEP

Ming S Soh, Richard D Bagnall, Mark F Bennett, Lauren E Bleakley, Erlina S Mohamed Syazwan, A Marie Phillips, Mathew DF Chiam, Chaseley E McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E Scheffer, Samuel F Berkovic, Christopher A Reid

Journal article  |  2021  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

OBJECTIVE: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls ..

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Sarah E Heron, Brigid M Regan, Rebekah V Harris, Alison E Gardner, Matthew J Coleman, Mark F Bennett, Bronwyn E Grinton, Katherine L Helbig, Michael R Sperling, Sheryl Haut, Eric B Geller, Peter Widdess-Walsh, James T Pelekanos, Melanie Bahlo, Slave Petrovski, Erin L Heinzen, Michael S Hildebrand, Mark A Corbett, Ingrid E Scheffer, Jozef Gecz, et al.

Journal article  |  2021  |  NEUROLOGY

OBJECTIVE: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we ..