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Results: 18

1.

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N.

J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. Erratum in: J Hum Genet. 2012 Jun;57(6):399.

PMID:
22399141
[PubMed - indexed for MEDLINE]
2.

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG.

J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9. Review.

PMID:
23299620
[PubMed - indexed for MEDLINE]
3.

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

Heron SE, Dibbens LM.

J Med Genet. 2013 Mar;50(3):133-9. doi: 10.1136/jmedgenet-2012-101406. Epub 2013 Jan 23. Review.

PMID:
23343561
[PubMed - indexed for MEDLINE]
4.

PRRT2 mutations and paroxysmal disorders.

Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E.

Eur J Neurol. 2013 Jun;20(6):872-8. doi: 10.1111/ene.12104. Epub 2013 Feb 9. Review.

PMID:
23398397
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Paroxysmal kinesigenic dyskinesias.

Lotze T, Jankovic J.

Semin Pediatr Neurol. 2003 Mar;10(1):68-79. Review.

PMID:
12785750
[PubMed - indexed for MEDLINE]
7.

[Recent advances of genetic research on paroxysmal kinesigenic dyskinesias].

Li XH, Chen SQ, Wang YM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Aug;25(4):410-3. Review. Chinese.

PMID:
18683138
[PubMed - indexed for MEDLINE]
8.

Familial (idiopathic) paroxysmal dyskinesias: an update.

Bhatia KP.

Semin Neurol. 2001;21(1):69-74. Review.

PMID:
11346027
[PubMed - indexed for MEDLINE]
9.

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.

Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ.

Neurology. 2004 Dec 28;63(12):2280-7. Review.

PMID:
15623687
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

[Paroxysmal dyskinesias].

Perona-Moratalla AB, Argandoña L, García-Muñozguren S.

Rev Neurol. 2009 Jan 23;48 Suppl 1:S7-9. Review. Spanish.

PMID:
19222019
[PubMed - indexed for MEDLINE]
Free Article
12.

Idiopathic epilepsy and paroxysmal dyskinesia.

Guerrini R.

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

PMID:
11520321
[PubMed - indexed for MEDLINE]
13.

Paroxysmal dyskinesias as a paradigm of paroxysmal movement disorders.

Vidailhet M.

Curr Opin Neurol. 2000 Aug;13(4):457-62. Review.

PMID:
10970065
[PubMed - indexed for MEDLINE]
14.

Benign familial infantile seizures.

Vigevano F.

Brain Dev. 2005 Apr;27(3):172-7. Review.

PMID:
15737697
[PubMed - indexed for MEDLINE]
15.

Paroxysmal dyskinesias.

Bhatia KP.

Mov Disord. 2011 May;26(6):1157-65. doi: 10.1002/mds.23765. Review.

PMID:
21626559
[PubMed - indexed for MEDLINE]
16.

Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms.

Singh R, Macdonell RA, Scheffer IE, Crossland KM, Berkovic SF.

Epileptic Disord. 1999 Jun;1(2):93-9. Review.

PMID:
10937138
[PubMed - indexed for MEDLINE]
17.

Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family.

Yeh TH, Lin JJ, Lai SC, Wu-Chou YH, Chen AC, Yueh KC, Chen RS, Lu CS.

J Neurol Sci. 2012 Dec 15;323(1-2):80-4. doi: 10.1016/j.jns.2012.08.015. Epub 2012 Sep 8. Review.

PMID:
22967746
[PubMed - indexed for MEDLINE]
18.

Paroxysmal choreodystonic disorders.

Sohn YH, Lee PH.

Handb Clin Neurol. 2011;100:367-73. doi: 10.1016/B978-0-444-52014-2.00028-8. Review.

PMID:
21496595
[PubMed - indexed for MEDLINE]

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