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Items: 1 to 20 of 410

1.

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R.

Epilepsia. 2012 Dec;53(12):2111-9. doi: 10.1111/j.1528-1167.2012.03649.x. Epub 2012 Sep 4.

2.

PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.

Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S.

Epilepsy Res. 2013 Sep;106(1-2):191-9. doi: 10.1016/j.eplepsyres.2013.04.005. Epub 2013 May 24.

PMID:
23712037
3.

Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy.

Ikeda H, Imai K, Ikeda H, Shigematsu H, Takahashi Y, Inoue Y, Higurashi N, Hirose S.

Epileptic Disord. 2016 Mar;18(1):26-33. doi: 10.1684/epd.2016.0803.

4.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E.

Am J Med Genet A. 2013 Feb;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15.

PMID:
23322667
5.

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F.

Epilepsia. 2012 Dec;53(12):2120-7. doi: 10.1111/j.1528-1167.2012.03718.x. Erratum in: Epilepsia. 2013 Jul;54(7):1333.

6.

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.

Camacho A, Simón R, Sanz R, Viñuela A, Martínez-Salio A, Mateos F.

Epilepsy Behav. 2012 May;24(1):134-7. doi: 10.1016/j.yebeh.2012.02.023. Epub 2012 Apr 14. Review.

PMID:
22504056
7.

PCDH19 mutation in Japanese females with epilepsy.

Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S.

Epilepsy Res. 2012 Mar;99(1-2):28-37. doi: 10.1016/j.eplepsyres.2011.10.014. Epub 2011 Nov 1.

PMID:
22050978
8.

Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring.

Yu HJ, Lee CG, Nam SH, Lee J, Lee M.

Brain Dev. 2013 Sep;35(8):771-7. doi: 10.1016/j.braindev.2013.02.005. Epub 2013 Mar 19.

PMID:
23522623
9.

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM.

Am J Med Genet A. 2010 Oct;152A(10):2475-81. doi: 10.1002/ajmg.a.33611.

PMID:
20830798
10.

Symptomatology of epileptic seizures in the first three years of life.

Hamer HM, Wyllie E, Lüders HO, Kotagal P, Acharya J.

Epilepsia. 1999 Jul;40(7):837-44.

11.

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.

12.

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

Gaily E, Anttonen AK, Valanne L, Liukkonen E, Träskelin AL, Polvi A, Lommi M, Muona M, Eriksson K, Lehesjoki AE.

Epilepsia. 2013 Sep;54(9):1577-85. doi: 10.1111/epi.12256. Epub 2013 Jun 28.

13.

Children with Rolandic spikes and ictal vomiting: Rolandic epilepsy or Panayiotopoulos syndrome?

Covanis A, Lada C, Skiadas K.

Epileptic Disord. 2003 Sep;5(3):139-43.

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16.

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R.

Neurology. 2010 Aug 17;75(7):646-53. doi: 10.1212/WNL.0b013e3181ed9e67.

PMID:
20713952
17.

[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].

Liu AJ, Zhang YH, Xu XJ, Yang XL, Yang ZX, Wu Y, Liu XY, Jiang YW, Wu XR.

Zhonghua Er Ke Za Zhi. 2016 May;54(5):327-31. doi: 10.3760/cma.j.issn.0578-1310.2016.05.004. Chinese.

PMID:
27143072
18.

Intracranial EEG in predicting surgical outcome in frontal lobe epilepsy.

Holtkamp M, Sharan A, Sperling MR.

Epilepsia. 2012 Oct;53(10):1739-45. doi: 10.1111/j.1528-1167.2012.03600.x. Epub 2012 Jul 19.

19.

Benign myoclonic epilepsy in infants: electroclinical features and long-term follow-up of 34 patients.

Auvin S, Pandit F, De Bellecize J, Badinand N, Isnard H, Motte J, Villeneuve N, Lamblin MD, Vallée L.

Epilepsia. 2006 Feb;47(2):387-93.

20.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE.

J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14.

PMID:
19752159

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