Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 193

1.

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
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.

3.

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.

4.

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.

5.

PRRT2 mutation in Japanese children with benign infantile epilepsy.

Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T.

Brain Dev. 2013 Aug;35(7):641-6. doi: 10.1016/j.braindev.2012.09.015. Epub 2012 Nov 3.

PMID:
23131349
6.

[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
7.

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
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.

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

PMID:
23896529
9.

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
10.

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.

11.

Re-evaluation of PRRT2 mutations in paroxysmal disorders.

Guo XN, Lu Q, Zhou XQ, Liu Q, Zhang X, Cui LY.

J Neurol. 2014 May;261(5):951-3. doi: 10.1007/s00415-014-7305-z. Epub 2014 Mar 9.

PMID:
24609974
12.

The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.

Steinlein OK, Villain M, Korenke C.

Seizure. 2012 Nov;21(9):740-2. doi: 10.1016/j.seizure.2012.07.006. Epub 2012 Aug 9.

13.

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
14.

[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].

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

Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):806-11. Chinese.

PMID:
25582463
15.

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C.

Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

16.

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
17.

Unusual variability of PRRT2 linked phenotypes within a family.

Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E.

Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8.

PMID:
24755245
18.

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
19.

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.

Heron SE, Ong YS, Yendle SC, McMahon JM, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 May;54(5):e86-9. doi: 10.1111/epi.12167. Epub 2013 Apr 8.

20.

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.

Sangu N, Shimojima K, Akihisa O, Ando T, Yamamoto T.

Epilepsy Res. 2015 Dec;118:10-3. doi: 10.1016/j.eplepsyres.2015.09.010. Epub 2015 Sep 21.

PMID:
26561923

Supplemental Content

Support Center