Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy-Reference-Cited by-同舟云学术

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Published:2020-04-14 Issue:5 Volume:7 Page:610-627
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Marafi Dana¹²^ORCID,Mitani Tadahiro¹,Isikay Sedat³,Hertecant Jozef⁴,Almannai Mohammed⁵,Manickam Kandamurugu⁶,Abou Jamra Rami⁷,El‐Hattab Ayman W.⁸,Rajah Jaishen⁹,Fatih Jawid M.¹,Du Haowei¹,Karaca Ender¹,Bayram Yavuz¹,Punetha Jaya¹^ORCID,Rosenfeld Jill A.¹^ORCID,Jhangiani Shalini N.¹⁰,Boerwinkle Eric¹⁰¹¹,Akdemir Zeynep C.¹,Erdin Serkan¹²,Hunter Jill V.¹³¹⁴,Gibbs Richard A.¹¹⁰,Pehlivan Davut¹¹³¹⁵,Posey Jennifer E.¹^ORCID,Lupski James R.¹¹⁰¹³¹⁶^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas 77030

2. Department of Pediatrics Faculty of Medicine Kuwait University P.O. Box 24923 13110Safat Kuwait

3. Department of Physiotherapy and Rehabilitation School of Health Sciences Hasan Kalyoncu University Gaziantep 27000Turkey

4. Pediatric Metabolic and Genetics Division Tawam Hospital Al Ain Abu Dhabi United Arab Emirates

5. Section of Medical Genetics Children's HospitalKing Fahad Medical City Riyadh 11525 Saudi Arabia

6. Division of Genetic and Genomic Medicine Nationwide Children’s Hospital Columbus Ohio

7. Institute of Human Genetics University Medical Center Leipzig 04103Leipzig Germany

8. Department of Clinical Sciences College of Medicine University of Sharjah Sharjah 27272United Arab Emirates

9. Sheikh Khalifa Medical City (SKMC) P.O. Box: 51900 Abu Dhabi United Arab Emirates

10. Human Genome Sequencing Center Baylor College of Medicine Houston Texas 77030

11. Human Genetics Center University of Texas Health Science Center at Houston Houston Texas

12. Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts

13. Texas Children's Hospital Houston Texas 77030

14. Department of Radiology Baylor College of Medicine Houston Texas 77030

15. Section of Pediatric Neurology and Developmental Neuroscience Department of Pediatrics Baylor College of Medicine Houston Texas 77030

16. Department of Pediatrics Baylor College of Medicine Houston Texas 77030

Funder

Deutsche Forschungsgemeinschaft

National Heart, Lung, and Blood Institute

Muscular Dystrophy Association

National Institute of Neurological Disorders and Stroke

Uehara Memorial Foundation

National Human Genome Research Institute

American Academy of Neurology

National Institutes of Health

American Brain Foundation

International Rett Syndrome Foundation

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51003

Reference56 articles.

1. The genetic landscape of the epileptic encephalopathies of infancy and childhood

2. Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

3. Glutamatergic Mechanisms Associated with Seizures and Epilepsy

4. GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

5. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

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