DETECTION OF SOMATIC MUTATIONS IN SPORADIC EPILEPSIES
Grant number: 1129054 | Funding period: 2017 - 2020
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
Related publications (4)
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..
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..