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Items: 6

1.

PRRT2 mutations are related to febrile seizures in epileptic patients.

He ZW, Qu J, Zhang Y, Mao CX, Wang ZB, Mao XY, Deng ZY, Zhou BT, Yin JY, Long HY, Xiao B, Zhang Y, Zhou HH, Liu ZQ.

Int J Mol Sci. 2014 Dec 16;15(12):23408-17. doi: 10.3390/ijms151223408.

2.

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

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X.

BMC Neurol. 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209.

3.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P.

Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17.

4.

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

Groffen AJ, Klapwijk T, van Rootselaar AF, Groen JL, Tijssen MA.

J Neurol. 2013 Jan;260(1):93-9. doi: 10.1007/s00415-012-6592-5. Epub 2012 Jun 30.

5.

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.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

6.

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, Massacrier A, Délepine M, Dessen P, Lazar V, Robaglia-Schlupp A, Lesca G, Jouve E, Rudolf G, Rochette J, Lathrop GM, Szepetowski P.

PLoS One. 2010 Oct 29;5(10):e13750. doi: 10.1371/journal.pone.0013750.

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