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Liu Lin Thio

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Posted on December 17, 2018

The International League Against Epilepsy Consortium on Complex Epilepsies. Nature Communications, Volume 9, Issue 1, 1 December 2018, Article number 5269 Read More

Posted in: Neurogenetics & Transcriptomics, Publications Faculty:

Gain-of-function HCN2 variants in genetic epilepsy

Posted on January 22, 2018

Melody Li, Snezana Maljevic, A. Marie Phillips, Slave Petrovski, Michael S. Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter N├╝rnberg, Michael Wong, Judith L. Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou,
Christopher A. Reid. Human Mutation, Volume 39, Issue 2, Februaryy 2018, Pages 202-209 Read More

Posted in: Neurogenetics & Transcriptomics, Publications Faculty: ,

Phenotypic analysis of 303 multiplex families with common epilepsies

Posted on September 11, 2017

Abou-Khalil, B., et. al…Thio, L.L., Thomas, R.H., Venkat, A., Vining, E., Von Allmen, G., Weisenberg, J., Widdess-Walsh, P., Winawer, M.R.: 2017 Brain, Volume 140, Issue 8, 1, Pages 2144-2156 Read More

Posted in: Neurogenetics & Transcriptomics, Publications Faculty:

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

Posted on February 23, 2015

Appenzeller, S. , Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P. et al; 2014 American Journal of Human Genetics, 95(4) pp360-370 Read More

Posted in: Neurogenetics, Publications Faculty: