Literature DB >> 5116697

A new familial form of convulsive disorder and mental retardation limited to females.

R C Juberg, C D Hellman.   

Abstract

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Year:  1971        PMID： 5116697     DOI： 10.1016/s0022-3476(71)80382-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  16 in total

1.  Genetic testing in epilepsy: what should you be doing?

Authors:  Ingrid E Scheffer
Journal:  Epilepsy Curr       Date:  2011-07       Impact factor: 7.500

Review 2.  Seizures and X-linked intellectual disability.

Authors:  Roger E Stevenson; Kenton R Holden; R Curtis Rogers; Charles E Schwartz
Journal:  Eur J Med Genet       Date:  2012-02-08       Impact factor: 2.708

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

Authors:  J J T van Harssel; S Weckhuysen; M J A van Kempen; K Hardies; N E Verbeek; C G F de Kovel; W B Gunning; E van Daalen; M V de Jonge; A C Jansen; R J Vermeulen; W F M Arts; H Verhelst; A Fogarasi; J F de Rijk-van Andel; A Kelemen; D Lindhout; P De Jonghe; B P C Koeleman; A Suls; E H Brilstra
Journal:  Neurogenetics       Date:  2013-01-20       Impact factor: 2.660

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

Authors:  Leanne M Dibbens; Patrick S Tarpey; Kim Hynes; Marta A Bayly; Ingrid E Scheffer; Raffaella Smith; Jamee Bomar; Edwina Sutton; Lucianne Vandeleur; Cheryl Shoubridge; Sarah Edkins; Samantha J Turner; Claire Stevens; Sarah O'Meara; Calli Tofts; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kelly Halliday; David Jones; Rebecca Lee; Mark Madison; Tatiana Mironenko; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; John Teague; Ed Dicks; Adam Butler; Andrew Menzies; Andrew Jenkinson; Rebecca Shepherd; James F Gusella; Zaid Afawi; Aziz Mazarib; Miriam Y Neufeld; Sara Kivity; Dorit Lev; Tally Lerman-Sagie; Amos D Korczyn; Christopher P Derry; Grant R Sutherland; Kathryn Friend; Marie Shaw; Mark Corbett; Hyung-Goo Kim; Daniel H Geschwind; Paul Thomas; Eric Haan; Stephen Ryan; Shane McKee; Samuel F Berkovic; P Andrew Futreal; Michael R Stratton; John C Mulley; Jozef Gécz
Journal:  Nat Genet       Date:  2008-05-11       Impact factor: 38.330

Review 5.  Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

Authors:  Kinga Duszyc; Iwona Terczynska; Dorota Hoffman-Zacharska
Journal:  J Appl Genet       Date:  2014-09-10       Impact factor: 3.240

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

Authors:  A Terracciano; N Specchio; F Darra; A Sferra; B Dalla Bernardina; F Vigevano; E Bertini
Journal:  Neurogenetics       Date:  2012-09-06       Impact factor: 2.660

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

Authors:  Christel Depienne; Oriane Trouillard; Delphine Bouteiller; Isabelle Gourfinkel-An; Karine Poirier; François Rivier; Patrick Berquin; Rima Nabbout; Denys Chaigne; Dominique Steschenko; Agnès Gautier; Dorota Hoffman-Zacharska; Annie Lannuzel; Marilyn Lackmy-Port-Lis; Hélène Maurey; Anne Dusser; Marie Bru; Brigitte Gilbert-Dussardier; Agathe Roubertie; Anna Kaminska; Sandra Whalen; Cyril Mignot; Stéphanie Baulac; Gaetan Lesca; Alexis Arzimanoglou; Eric LeGuern
Journal:  Hum Mutat       Date:  2011-01       Impact factor: 4.878

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

Authors:  Duyen H Pham; Chuan C Tan; Claire C Homan; Kristy L Kolc; Mark A Corbett; Dale McAninch; Archa H Fox; Paul Q Thomas; Raman Kumar; Jozef Gecz
Journal:  Hum Mol Genet       Date:  2017-06-01       Impact factor: 6.150

9.  A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

Authors:  Xuechao Zhao; Yanhong Wang; Shiyue Mei; Xiangdong Kong
Journal:  Mol Genet Genomic Med       Date:  2020-04-21       Impact factor: 2.183

10.  Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.

Authors:  Yuxia Tan; Mei Hou; Shaochun Ma; Peipei Liu; Shungang Xia; Yu Wang; Liping Chen; Zongbo Chen
Journal:  BMC Med Genet       Date:  2018-06-04       Impact factor: 2.103
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