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1

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

Rochette J, Roll P, Szepetowski P. Rochette J, et al. J Med Genet. 2008 Dec;45(12):773-9. doi: 10.1136/jmg.2008.059519. J Med Genet. 2008. PMID: 19047496 Review.

2

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.

Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P. Rochette J, et al. Epileptic Disord. 2010 Sep;12(3):199-204. doi: 10.1684/epd.2010.0328. Epub 2010 Aug 17. Epileptic Disord. 2010. PMID: 20716510 Free article.

3

Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.

Demir E, Prud'homme JF, Topçu M. Demir E, et al. Pediatr Neurol. 2004 May;30(5):349-53. doi: 10.1016/j.pediatrneurol.2003.11.003. Pediatr Neurol. 2004. PMID: 15165638

4

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

Heron SE, Dibbens LM. Heron SE, et al. J Med Genet. 2013 Mar;50(3):133-9. doi: 10.1136/jmedgenet-2012-101406. Epub 2013 Jan 23. J Med Genet. 2013. PMID: 23343561 Review.

5

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.

van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, Boon M, Samijn J, Diderich K, van de Laar I, Oostra B, Bonifati V, Maat-Kievit A. van Vliet R, et al. Neurology. 2012 Aug 21;79(8):777-84. doi: 10.1212/WNL.0b013e3182661fe3. Epub 2012 Aug 8. Neurology. 2012. PMID: 22875091

6

[Familial and non-familial benign infantile seizures: A homogeneous entity?].

Bourel-Ponchel E, Le Moing AG, Delignières A, De Broca A, Wallois F, Berquin P. Bourel-Ponchel E, et al. Rev Neurol (Paris). 2011 Aug-Sep;167(8-9):592-9. doi: 10.1016/j.neurol.2011.01.005. Epub 2011 May 17. Rev Neurol (Paris). 2011. PMID: 21592539 French.

7

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P. Caraballo R, et al. Am J Hum Genet. 2001 Mar;68(3):788-94. doi: 10.1086/318805. Epub 2001 Feb 13. Am J Hum Genet. 2001. PMID: 11179027 Free PMC article.

8

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.

Wang JL, Mao X, Hu ZM, Li JD, Li N, Guo JF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tang BS. Wang JL, et al. Neurosci Lett. 2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26. Neurosci Lett. 2013. PMID: 23896529

9

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions.

Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Kato N, et al. Epilepsy Res. 2006 Aug;70 Suppl 1:S174-84. doi: 10.1016/j.eplepsyres.2006.02.009. Epub 2006 Aug 9. Epilepsy Res. 2006. PMID: 16901678 Review.

10

Benign familial infantile seizures: further delineation of the syndrome.

Caraballo RH, Cersósimo RO, Amartino H, Szepetowski P, Fejerman N. Caraballo RH, et al. J Child Neurol. 2002 Sep;17(9):696-9. doi: 10.1177/088307380201700909. J Child Neurol. 2002. PMID: 12503648

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