News & Publications for:

Liu Lin Thio

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:

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Posted on October 27, 2011

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB (2011). Eur J Hum Genet, doi:10.1038/ejhg
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Posted in: Neurogenetics, Publications Faculty: ,