Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 101

1.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J.

Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11.

2.

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
3.

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
4.

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E.

Neurogenetics. 2012 Nov;13(4):341-5. doi: 10.1007/s10048-012-0342-9. Epub 2012 Sep 6.

PMID:
22949144
5.

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

Depienne C, LeGuern E.

Hum Mutat. 2012 Apr;33(4):627-34. doi: 10.1002/humu.22029. Epub 2012 Feb 14. Review.

6.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J.

Nat Genet. 2007 Sep;39(9):1127-33. Epub 2007 Aug 19.

7.

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

Duszyc K, Terczynska I, Hoffman-Zacharska D.

J Appl Genet. 2015 Feb;56(1):49-56. doi: 10.1007/s13353-014-0243-8. Epub 2014 Sep 10. Review.

PMID:
25204757
8.

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH.

Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20.

PMID:
23334464
9.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE.

Neurology. 2011 Apr 26;76(17):1514-9. doi: 10.1212/WNL.0b013e318217e7b6.

PMID:
21519002
10.

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.

Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S.

Nat Genet. 1997 Sep;17(1):92-5.

PMID:
9288105
11.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J.

Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29.

PMID:
26123493
12.

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T.

J Hum Genet. 2011 Aug;56(8):561-5. doi: 10.1038/jhg.2011.58. Epub 2011 Jun 2.

PMID:
21633362
13.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E.

Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373.

14.

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.

Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF.

Clin Genet. 2012 Dec;82(6):540-5. doi: 10.1111/j.1399-0004.2011.01812.x. Epub 2011 Dec 13.

PMID:
22091964
15.

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM.

Am J Hum Genet. 2003 Dec;73(6):1341-54. Epub 2003 Nov 18.

16.

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
17.

PCDH19 mutations in female patients from Southern Italy.

Gagliardi M, Annesi G, Sesta M, Tarantino P, Conti P, Labate A, Di Rosa G, Quattrone A, Gambardella A.

Seizure. 2015 Jan;24:118-20. doi: 10.1016/j.seizure.2014.08.010. Epub 2014 Aug 30.

18.

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.

Liu A, Xu X, Yang X, Jiang Y, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y.

Clin Genet. 2017 Jan;91(1):54-62. doi: 10.1111/cge.12846. Epub 2016 Nov 7.

PMID:
27527380
19.

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).

Pham DH, Tan CC, Homan CC, Kolc KL, Corbett MA, McAninch D, Fox AH, Thomas PQ, Kumar R, Gecz J.

Hum Mol Genet. 2017 Jun 1;26(11):2042-2052. doi: 10.1093/hmg/ddx094.

20.

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.

Supplemental Content

Support Center