Literature DB >> 22377486

Seizures and X-linked intellectual disability.

Roger E Stevenson1, Kenton R Holden, R Curtis Rogers, Charles E Schwartz.   

Abstract

Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual disability in almost half of these X-linked disorders. The spectrum of seizures found in the X-linked intellectual disability syndromes is broad, varying in time of onset, type of seizure, and response to anticonvulsant therapy. The majority of the genes associated with XLID and seizures have now been identified.
Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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Year:  2012        PMID: 22377486      PMCID: PMC3531238          DOI: 10.1016/j.ejmg.2012.01.017

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  40 in total

1.  SRPX2 mutations in disorders of language cortex and cognition.

Authors:  Patrice Roll; Gabrielle Rudolf; Sandrine Pereira; Barbara Royer; Ingrid E Scheffer; Annick Massacrier; Maria-Paola Valenti; Nathalie Roeckel-Trevisiol; Sarah Jamali; Christophe Beclin; Caroline Seegmuller; Marie-Noëlle Metz-Lutz; Arnaud Lemainque; Marc Delepine; Christophe Caloustian; Anne de Saint Martin; Nadine Bruneau; Danièle Depétris; Marie-Geneviève Mattéi; Elisabeth Flori; Andrée Robaglia-Schlupp; Nicolas Lévy; Bernd A Neubauer; Rivka Ravid; Christian Marescaux; Samuel F Berkovic; Edouard Hirsch; Mark Lathrop; Pierre Cau; Pierre Szepetowski
Journal:  Hum Mol Genet       Date:  2006-02-23       Impact factor: 6.150

2.  Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Authors:  Petter Strømme; Marie E Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Journal:  Nat Genet       Date:  2002-03-11       Impact factor: 38.330

Review 3.  The prevalence of mental retardation.

Authors:  M Kiely
Journal:  Epidemiol Rev       Date:  1987       Impact factor: 6.222

4.  Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.

Authors:  B H Robinson; H MacMillan; R Petrova-Benedict; W G Sherwood
Journal:  J Pediatr       Date:  1987-10       Impact factor: 4.406

5.  Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

Authors:  Kunio Kitamura; Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusaka; Kayo Omichi; Rika Suzuki; Yuko Kato-Fukui; Kyoko Kamiirisa; Mina Matsuo; Shin-ichi Kamijo; Megumi Kasahara; Hidefumi Yoshioka; Tsutomu Ogata; Takayuki Fukuda; Ikuko Kondo; Mitsuhiro Kato; William B Dobyns; Minesuke Yokoyama; Ken-ichirou Morohashi
Journal:  Nat Genet       Date:  2002-10-15       Impact factor: 38.330

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

Authors:  S G Ryan; P F Chance; C H Zou; N B Spinner; J A Golden; S Smietana
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

7.  A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Authors:  Juliane Ramser; Fatima E Abidi; Celine A Burckle; Claus Lenski; Helga Toriello; Gaiping Wen; Herbert A Lubs; Stefanie Engert; Roger E Stevenson; Alfons Meindl; Charles E Schwartz; Genevieve Nguyen
Journal:  Hum Mol Genet       Date:  2005-03-03       Impact factor: 6.150

8.  Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Authors:  J W Fox; E D Lamperti; Y Z Ekşioğlu; S E Hong; Y Feng; D A Graham; I E Scheffer; W B Dobyns; B A Hirsch; R A Radtke; S F Berkovic; P R Huttenlocher; C A Walsh
Journal:  Neuron       Date:  1998-12       Impact factor: 17.173

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

Authors:  Kim Hynes; Patrick Tarpey; Leanne M Dibbens; Marta A Bayly; Samuel F Berkovic; Raffaella Smith; Zahyia Al Raisi; Samantha J Turner; Natasha J Brown; Tarishi D Desai; Eric Haan; Gillian Turner; John Christodoulou; Helen Leonard; Deepak Gill; Michael R Stratton; Jozef Gecz; Ingrid E Scheffer
Journal:  J Med Genet       Date:  2009-09-14       Impact factor: 6.318

10.  AGTR2 mutations in X-linked mental retardation.

Authors:  Virginie S Vervoort; Michael A Beachem; Penny S Edwards; Sydney Ladd; Karin E Miller; Xavier de Mollerat; Katie Clarkson; Barbara DuPont; Charles E Schwartz; Roger E Stevenson; Ellen Boyd; Anand K Srivastava
Journal:  Science       Date:  2002-06-28       Impact factor: 47.728

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  2 in total

1.  Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Authors:  Eric R Londin; Jeffrey Adijanto; Nancy Philp; Antonio Novelli; Emilia Vitale; Chiara Perria; Gigliola Serra; Viola Alesi; Saul Surrey; Paolo Fortina
Journal:  Am J Med Genet A       Date:  2014-06-04       Impact factor: 2.802

2.  Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations.

Authors:  Kate Baker; Duncan E Astle; Gaia Scerif; Jessica Barnes; Jennie Smith; Georgina Moffat; Jonathan Gillard; Torsten Baldeweg; F Lucy Raymond
Journal:  Ann Clin Transl Neurol       Date:  2015-04-09       Impact factor: 4.511

  2 in total

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