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Results: 1 to 20 of 134

1.

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]
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.

PMID:
24370076
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
23190448
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F.

Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17.

PMID:
22902423
[PubMed - indexed for MEDLINE]
8.

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

Labate A, Tarantino P, Viri M, Mumoli L, Gagliardi M, Romeo A, Zara F, Annesi G, Gambardella A.

Epilepsia. 2012 Dec;53(12):e196-9. doi: 10.1111/epi.12009. Epub 2012 Nov 5.

PMID:
23126439
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
23077017
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM.

Neurology. 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17.

PMID:
23077018
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.

Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S.

Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13.

PMID:
23073245
[PubMed - indexed for MEDLINE]
13.

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]
14.

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X.

J Med Genet. 2012 Feb;49(2):79-82. doi: 10.1136/jmedgenet-2011-100653. Epub 2011 Dec 29.

PMID:
22209761
[PubMed - indexed for MEDLINE]
15.

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.

Labate A, Tarantino P, Palamara G, Gagliardi M, Cavalcanti F, Ferlazzo E, Sturniolo M, Incorpora G, Annesi G, Aguglia U, Gambardella A.

Epilepsy Res. 2013 May;104(3):280-4. doi: 10.1016/j.eplepsyres.2012.10.014. Epub 2013 Jan 23.

PMID:
23352743
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
22752065
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

PRRT2 mutation causes benign familial infantile convulsions.

de Vries B, Callenbach PM, Kamphorst JT, Weller CM, Koelewijn SC, ten Houten R, de Coo IF, Brouwer OF, van den Maagdenberg AM.

Neurology. 2012 Nov 20;79(21):2154-5. doi: 10.1212/WNL.0b013e3182752c30. Epub 2012 Oct 17.

PMID:
23077019
[PubMed - indexed for MEDLINE]
18.

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H.

Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17.

PMID:
23077024
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.

Lee YC, Lee MJ, Yu HY, Chen C, Hsu CH, Lin KP, Liao KK, Chang MH, Liao YC, Soong BW.

PLoS One. 2012;7(8):e38543. doi: 10.1371/journal.pone.0038543. Epub 2012 Aug 1.

PMID:
22870186
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

PRRT2 mutations are the major cause of benign familial infantile seizures.

Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG.

Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11.

PMID:
22623405
[PubMed - indexed for MEDLINE]
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