Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy-Reference-Cited by-同舟云学术

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

Published:2018-05-16 Issue:6 Volume:83 Page:1133-1146
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Winawer Melodie R.¹²,Griffin Nicole G.³,Samanamud Jorge⁴,Baugh Evan H.³,Rathakrishnan Dinesh¹,Ramalingam Senthilmurugan⁵,Zagzag David⁶⁷,Schevon Catherine A.²,Dugan Patricia⁸,Hegde Manu⁹,Sheth Sameer A.¹⁰,McKhann Guy M.¹⁰,Doyle Werner K.⁷,Grant Gerald A.¹¹,Porter Brenda E.¹²,Mikati Mohamad A.¹³¹⁴,Muh Carrie R.¹⁵,Malone Colin D.³,Bergin Ann Marie R.¹⁶¹⁷,Peters Jurriaan M.¹⁶¹⁷,McBrian Danielle K.¹⁸,Pack Alison M.²,Akman Cigdem I.¹⁸,LaCoursiere Christopher M.¹⁹,Keever Katherine M.²⁰,Madsen Joseph R.²¹,Yang Edward²²,Lidov Hart G. W.²³,Shain Catherine¹⁹,Allen Andrew S.²⁴,Canoll Peter D.²⁵,Crino Peter B.⁵,Poduri Annapurna H.¹⁶¹⁷¹⁹²⁶,Heinzen Erin L.³²⁵^ORCID

Affiliation:

1. Gertrude H. Sergievsky CenterColumbia UniversityNew York NY

2. Department of NeurologyColumbia UniversityNew York NY

3. Institute for Genomic MedicineColumbia UniversityNew York NY

4. Department of NeurosurgeryColumbia University, New York Presbyterian HospitalNew York NY

5. Department of NeurologyUniversity of Maryland, School of MedicineBaltimore MD

6. Department of PathologyNew York University Langone Medical CenterNew York NY

7. Department of NeurosurgeryNew York University Langone Medical CenterNew York NY

8. Department of NeurologyNew York University Langone Medical CenterNew York NY

9. Department of NeurologyUniversity of CaliforniaSan Francisco, San Francisco CA

10. Department of Neurological SurgeryColumbia UniversityNew York NY

11. Department of NeurosurgeryLucile Packard Children's Hospital at StanfordStanford CA

12. Department of NeurologyLucile Packard Children's Hospital at StanfordStanford CA

13. Division of Pediatric NeurologyDuke University Medical CenterDurham NC

14. Department of NeurobiologyDuke UniversityDurham NC

15. Department of NeurosurgeryDuke University Medical CenterDurham NC

16. Department of NeurologyHarvard Medical SchoolBoston MA

17. Division of Epilepsy and Clinical Neurophysiology, Department of NeurologyBoston Children's HospitalBoston MA

18. Division of Pediatric NeurologyColumbia UniversityNew York NY

19. Epilepsy Genetics Program, Department of NeurologyBoston Children's HospitalBoston MA

20. Department of Neurology, Translational Neuroscience CenterBoston Children's Hospital, Harvard Medical SchoolBoston MA

21. Department of NeurosurgeryBoston Children's Hospital and Department of Neurosurgery, Harvard Medical SchoolBoston MA

22. Department of Radiology, Boston Children's Hospital and Department of RadiologyHarvard Medical SchoolBoston MA

23. Department of Pathology, Boston Children's Hospital and Department of PathologyHarvard Medical SchoolBoston MA

24. Department of Biostatistics and BioinformaticsDuke UniversityDurham NC

25. Department of Pathology and Cell BiologyColumbia UniversityNew York NY

26. F. M. Kirby Neurobiology CenterBoston Children's HospitalBoston MA

Funder

NIH

Intellectual and Developmental Disabilities Research Center

Biogen

Gilead Sciences

UCB

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

National Center for Advancing Translational Sciences

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Bill and Melinda Gates Foundation

Muscular Dystrophy Association

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25243

Reference53 articles.

1. Estimating risk for developing epilepsy: A population-based study in Rochester, Minnesota

2. Surgery for Drug-Resistant Epilepsy in Children

3. A Randomized, Controlled Trial of Surgery for Temporal-Lobe Epilepsy

4. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

5. Mutations in DEPDC5 cause familial focal epilepsy with variable foci

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