News & Publications for:

Liu Lin Thio

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: ,

The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway

Posted on October 24, 2011

McDaniel SS, Rensing NR, Thio LL, Yamada KA, Wong M (2011). Epilepsia, 52(3):e7-11
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Posted in: Neurogenetics, Publications Faculty: , ,

A ketogenic diet does not impair rat behavior or long-term potentiation

Posted on October 24, 2010

Thio LL, Rensing N, Maloney S, Wozniak DF, Xiong C, Yamada KA (2010). Epilepsia, 51(8):1619-23
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