The molecular and phenotypic spectrum ofIQSEC2-related epilepsy-Reference-Cited by-同舟云学术

The molecular and phenotypic spectrum ofIQSEC2-related epilepsy

Published:2016-09-26 Issue:11 Volume:57 Page:1858-1869
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Zerem Ayelet¹,Haginoya Kazuhiro²,Lev Dorit¹³,Blumkin Lubov¹³,Kivity Sara¹,Linder Ilan¹,Shoubridge Cheryl⁴,Palmer Elizabeth Emma⁵⁶⁷,Field Michael⁵⁶,Boyle Jackie⁵⁶,Chitayat David⁷⁸,Gaillard William D.⁹,Kossoff Eric H.¹⁰,Willems Marjolaine¹¹,Geneviève David¹¹,Tran-Mau-Them Frederic¹¹,Epstein Orna¹²,Heyman Eli¹²,Dugan Sarah¹³,Masurel-Paulet Alice¹⁴,Piton Ame'lie¹⁵¹⁶,Kleefstra Tjitske¹⁷,Pfundt Rolph¹⁷,Sato Ryo²,Tzschach Andreas¹⁸¹⁹,Matsumoto Naomichi²⁰,Saitsu Hirotomo²⁰,Leshinsky-Silver Esther¹³,Lerman-Sagie Tally¹³

Affiliation:

1. Pediatric Neurology Unit; Metabolic-Neurogenetic Clinic; Wolfson Medical Center; Institute of Medical Genetics; Holon Israel

2. Department of Neurology; Takuto Rehabilitation Center for Children; Miyagi Children's Hospital; Sendai Japan

3. Sackler School of Medicine; Tel-Aviv University; Tel-Aviv Israel

4. Department of Paediatrics; School of Paediatrics and Reproductive Health; University of Adelaide; Adelaide South Australia Australia

5. GOLD Genetics of Learning Disability Service; Waratah New South Wales Australia

6. University of New South Wales; Sydney New South Wales Australia

7. Department of Obstetrics and Gynecology; The Prenatal Diagnosis and Medical Genetics Program; Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada

8. Division of Clinical and Metabolic Genetics; Department of Pediatrics; The Hospital of Sickkids; University of Toronto; Toronto Ontario Canada

9. Pediatrics and Neurology; Division Epilepsy and Neurophysiology; Comprehensive Pediatric Epilepsy Program; Center for Neuroscience Research; Children's National Medical Center; George Washington University; Washington District of Columbia U.S.A.

10. Departments of Pediatrics and Neurology; The Johns Hopkins Hospital; Baltimore Maryland U.S.A.

11. Department of Medical Genetics, Rare Diseases and Personalized Medicine; Faculty of Medicine; Unit INSERM 1183; CHU Montpellier; University of Montpellier; Montpellier France

12. Pediatric Neurology Department; Pediatric Epilepsy Service; Asaf Harofeh Medical Center; Zerifin Israel

13. Children's Hospitals and Clinics of Minnesota; Minneapolis Minnesota U.S.A.

14. Reference Center for Developmental Anomalies and Syndromes; Children's Hospital; CHU Dijon; Dijon France

15. Department of Translational Medicine and Neurogenetics; IGBMC; CNRS UMR 7104/INSERM U964/Strasbourg University; Strasbourg France

16. Genetic Diagnostic Laboratory; University Hospitals of Strasbourg; Strasbourg France

17. Department of Human Genetics; Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience; Radboud University Medical Center; Nijmegen The Netherlands

18. Institute of Medical Genetics and Applied Genomics; University Hospital Tübingen; Tübingen Germany

19. Institute of Clinical Genetics; Technische Universität Dresden; Dresden Germany

20. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13560/fullpdf

Reference21 articles.

1. Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome;Morleo;Mol Med Rep,2008

2. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability;Shoubridge;Nat Genet,2010

3. Diagnostic exome sequencing identified two novel IQSEC2 mutation associated with X-linked intellectual disability with seizures: implication of genetic counseling and clinical diagnosis;Gandomi;J Genet Couns,2014

4. De novo mutations in epileptic encephalopathies. Epi4K Consortium; Epilepsy Phenome/Genome Project;Allen;Nature,2013

5. Expanding the phenotype of IQSEC2 mutation: truncating mutation in severe intellectual disability;Tran Mau-Them;Eur J Hum Genet,2014

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