RARS 2 mutations in a sibship with infantile spasms-Reference-Cited by-同舟云学术

RARS 2 mutations in a sibship with infantile spasms

Published:2016-04-08 Issue:5 Volume:57 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Ngoh Adeline¹²,Bras Jose³,Guerreiro Rita³⁴,Meyer Esther¹,McTague Amy¹²,Dawson Eleanor⁵,Mankad Kshitij⁶,Gunny Roxana⁶,Clayton Peter⁷⁸,Mills Philippa B.⁷,Thornton Rachel⁹,Lai Ming¹⁰,Forsyth Robert⁵¹¹^ORCID,Kurian Manju A.¹²

Affiliation:

1. Molecular Neurosciences, Developmental Neurosciences Programme UCL‐Institute of Child Health London United Kingdom

2. Department of Neurology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

3. Department of Molecular Neuroscience UCL‐Institute of Neurology London United Kingdom

4. Laboratory of Neurogenetics National Institute on Aging National Institutes of Health Bethesda Maryland U.S.A

5. Department of Paediatric Neurology Great North Children's Hospital Royal Victoria Infirmary Newcastle upon Tyne United Kingdom

6. Department of Radiology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

7. Genetics and Genomic Medicine Programme UCL‐Institute of Child Health London United Kingdom

8. Metabolic Medicine Unit Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

9. Department of Neurophysiology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

10. Department of Neurophysiology Royal Victoria Infirmary Newcastle upon Tyne United Kingdom

11. Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom

Funder

Action Medical Research

Alzheimer's Society

Alzheimer’s Research UK

Medical Research Council

Wellcome Trust

Rosetrees Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.13358

Reference13 articles.

1. A population-based study of newly diagnosed epilepsy in infants

2. Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

3. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

4. A framework for variation discovery and genotyping using next-generation DNA sequencing data

5. Electroencephalographic evolution of hypsarrhythmia: Toward an early treatment option

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