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Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome Volume 12, numéro 3, September 2010

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[Lee et al., 1998] Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Hum Genet 1998; 103: 608-12.

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[Striano et al., 2006] Striano P, Lispi ML, Gennaro E, et al. Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. Epilepsia 2006; 47: 1029-34.

[Suls et al., 2009] Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009; 66: 415-9.

[Suls et al., 2008] Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008; 131: 1831-44.

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[Weber et al., 2008] Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008; 118: 2157-68.