Publications:

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Bmc Neurology

Yang, Xiaoling X; Zhang, Yuehua Y; Xu, Xiaojing X; Wang, Shuang S; Yang, Zhixian Z; Wu, Ye Y; Liu, Xiaoyan X; Wu, Xiru X

Publication Date: 2013-12-26

Variant appearance in text: ICCA: 879+5G>A

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Neurology

Cloarec, Robin R; Bruneau, Nadine N; Rudolf, Gabrielle G; Massacrier, Annick A; Salmi, Manal M; Bataillard, Marc M; Boulay, Clotilde C; Caraballo, Roberto R; Fejerman, Natalio N; Genton, Pierre P; Hirsch, Edouard E; Hunter, Alasdair A; Lesca, Gaetan G; Motte, Jacques J; Roubertie, Agathe A; Sanlaville, Damien D; Wong, Sau-Wei SW; Fu, Ying-Hui YH; Rochette, Jacques J; Ptácek, Louis J LJ; Szepetowski, Pierre P

Publication Date: 2012-11-20

Variant appearance in text: PRRT2: 879+5G>A

PubMed Link: 23077017

Variant Present in the following documents:

• Main text

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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

American Journal Of Human Genetics

Heron, Sarah E SE; Grinton, Bronwyn E BE; Kivity, Sara S; Afawi, Zaid Z; Zuberi, Sameer M SM; Hughes, James N JN; Pridmore, Clair C; Hodgson, Bree L BL; Iona, Xenia X; Sadleir, Lynette G LG; Pelekanos, James J; Herlenius, Eric E; Goldberg-Stern, Hadassa H; Bassan, Haim H; Haan, Eric E; Korczyn, Amos D AD; Gardner, Alison E AE; Corbett, Mark A MA; Gécz, Jozef J; Thomas, Paul Q PQ; Mulley, John C JC; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Dibbens, Leanne M LM

Publication Date: 2012-01-13

Variant appearance in text: ICCA: 879+5G>A

PubMed Link: 22243967

Variant Present in the following documents:

• Main text

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