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Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.
Robertson L, Featherby T, Howell S, Hughes J, Thomas P. Robertson L, et al. Among authors: hughes j. Genes Brain Behav. 2019 Jun;18(5):e12566. doi: 10.1111/gbb.12566. Epub 2019 Apr 1. Genes Brain Behav. 2019. PMID: 30884140 Free article.
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Among authors: hughes jn. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003. Am J Hum Genet. 2012. PMID: 22243967 Free PMC article.
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ. Pederick DT, et al. Among authors: hughes jn. Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005. Neuron. 2018. PMID: 29301106 Free article.
6,950 results