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Items: 1 to 20 of 180

1.

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.

Epileptic Disord. 2010 Sep;12(3):199-204. doi: 10.1684/epd.2010.0328. Epub 2010 Aug 17.

2.

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.

Am J Hum Genet. 2001 Mar;68(3):788-94. Epub 2001 Feb 13.

3.

Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.

Demir E, Prud'homme JF, Topçu M.

Pediatr Neurol. 2004 May;30(5):349-53.

PMID:
15165638
4.

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

Rochette J, Roll P, Szepetowski P.

J Med Genet. 2008 Dec;45(12):773-9. doi: 10.1136/jmg.2008.059519. Review.

PMID:
19047496
5.
6.

Idiopathic epilepsy and paroxysmal dyskinesia.

Guerrini R.

Epilepsia. 2001;42 Suppl 3:36-41. Review.

7.

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.

Neurosci Lett. 2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26.

PMID:
23896529
9.

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.

Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi YH, Tang BS, Liao WP.

Genes Brain Behav. 2013 Mar;12(2):234-40. doi: 10.1111/gbb.12008. Epub 2012 Dec 21.

10.

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.

Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E.

Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27.

PMID:
22744660
11.

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree.

Cuenca-Leon E, Cormand B, Thomson T, Macaya A.

Neuropediatrics. 2002 Dec;33(6):288-93.

PMID:
12571782
12.

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis.

Hattori H, Fujii T, Nigami H, Higuchi Y, Tsuji M, Hamada Y.

Brain Dev. 2000 Oct;22(7):432-5.

PMID:
11102728
13.

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.

14.

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.

Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ.

Neurology. 2000 Jul 25;55(2):224-30.

PMID:
10908896
15.

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.

Neurology. 2012 Aug 21;79(8):777-84. doi: 10.1212/WNL.0b013e3182661fe3. Epub 2012 Aug 8.

PMID:
22875091
16.

Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin.

van Strien TW, van Rootselaar AF, Hilgevoord AA, Linssen WH, Groffen AJ, Tijssen MA.

Parkinsonism Relat Disord. 2012 Jun;18(5):645-8. doi: 10.1016/j.parkreldis.2012.03.006. Epub 2012 Mar 30.

17.

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.

18.

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.

Bennett LB, Roach ES, Bowcock AM.

Neurology. 2000 Jan 11;54(1):125-30.

PMID:
10636137
19.

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.

Epilepsy Res. 2006 Aug;70 Suppl 1:S174-84. Epub 2006 Aug 9. Review.

PMID:
16901678
20.

[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].

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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):679-85. doi: 10.3760/cma.j.issn.1003-9406.2014.06.001. Chinese.

PMID:
25449067

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