De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Neurol Genet

Harvard Chan School of Public Health (E.L.), Harvard University, Boston, MA; Department of Paediatrics (A.W.), University Hospital Southampton NHS Foundation Trust; Nuffield Department Women's + Reproductive Health (E.D., J.C., J.P.), University of Oxford, The Women's Centre; Department of Neuropathology (M.H.), Oxford University Hospitals NHS Foundation Trust; Oxford Children's Hospital (G.A., S.J.), Oxford University Hospitals NHS Foundation Trust; Wessex Clinical Genetics Service (V.H.), University Hospital Southampton NHS Foundation Trust; and Department of Medical and Molecular Genetics (C.F., I.A.B., M.S.), King's College London School of Basic and Medical Biosciences, London, United Kingdom.

Published: August 2018

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089689PMC
http://dx.doi.org/10.1212/NXG.0000000000000258DOI Listing

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