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Liu Lin Thio

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 Nürnberg, 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:

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Posted on May 21, 2014

Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM; European Journal of Human Genetics 22(5) pp 589-593 Read More

Posted in: Neurogenetics, Publications Faculty: