EXPLORING SOMATIC MUTATION IN FOCAL EPILEPSIES
Grant number: 1079058 | Funding period: 2015 - 2017
Epilepsy is a common disease in the Australian population affecting 3 percent of individuals. It incurs lifelong medical, social and educational costs, and in some cases can be fatal. It is a large burden on public healthcare in Australia. Focal epilepsies are the most common type of seizure that arise from specific parts of the brain. This study has two aims and a future strategy relevant to gene discovery and clinical testing for focal epilepsy.
Related publications (6)
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A Damiano, Lara McQuillan, Anthony Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J Lockhart, Alexander Dobrovic, Ingrid E Scheffer, Melanie Bahlo
Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and ma..
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P Almanza Fuerte, Michele G Mehaffey, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim
Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities..
SCN1A Variants in vaccine-related febrile seizures: A prospective study
John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid E Scheffer, Nicholas Wood, Samuel F Berkovic
OBJECTIVE: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile..
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
Somatic mutation of the lissencephaly-1 gene is a cause of subcortical band heterotopia ("double cortex"). The severity of the phe..
De novo SCN1A pathogenic variants in the GEFS plus spectrum: Not always a familial syndrome
Kenneth A Myers, Rosemary Burgess, Zaid Afawi, John A Damiano, Samuel F Berkovic, Michael S Hildebrand, Ingrid E Scheffer
Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes rang..
A targeted resequencing gene panel for focal epilepsy
Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford
OBJECTIVES: We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of..