Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features-Reference-Cited by-同舟云学术

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

Published:2013-02-28 Issue:6 Volume:54 Page:1002-1011
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Uusimaa Johanna¹,Gowda Vasantha²,McShane Anthony²,Smith Conrad³,Evans Julie³,Shrier Annie¹,Narasimhan Manisha⁴,O'Rourke Anthony³,Rajabally Yusuf⁴,Hedderly Tammy⁵,Cowan Frances⁵⁶,Fratter Carl³,Poulton Joanna¹

Affiliation:

1. Nuffield Department of Obstetrics and Gynaecology The Women's Centre John Radcliffe Hospital University of Oxford Oxford United Kingdom

2. Department of Paediatric Neurology Oxford Children's Hospital Oxford United Kingdom

3. Oxford Medical Genetics Lab Churchill Hospital Oxford United Kingdom

4. Department of Neurology University Hospitals of Leicester Leicester United Kingdom

5. Evelina Childrens Hospital at Guy's and St. Thomas' Hospital and Kings Health Partners London United Kingdom

6. Department of Paediatrics Imperial College Hammersmith Campus London United Kingdom

Funder

Wellcome Trust

Sigrid Juselius Foundation

Foundation for Paediatric Research, Finland

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12115

Reference43 articles.

1. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

2. Identification of Pharmacoresistant Epilepsy

3. Epileptic phenotypes associated with mitochondrial disorders

4. Etiology and clinical predictors of intractable epilepsy

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