Journal article
The genetic landscape of the epileptic encephalopathies of infancy and childhood
A McTague, KB Howell, JH Cross, MA Kurian, IE Scheffer
Lancet Neurology | ELSEVIER SCIENCE INC | Published : 2016
Abstract
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific seizure types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with ..
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Awarded by Medical Research Council
Funding Acknowledgements
AM is funded by a UK Medical Research Council Research Training Fellowship. MAK is funded by a UK Wellcome Intermediate Clinical Fellowship. KBH is supported by the Australian Gustav Nossal National Health and Medical Research Council Postgraduate Scholarship and the Clifford PhD Scholarship. JHC is supported as a co-investigator by research grants from the European Union and from the UK National Institute for Health Research, Action Medical Research, Sparks, and the Great Ormond Street Hospital Children's Charity. IES is supported by an Australian National Health and Medical Research Council Practitioner Fellowship and Program Grant.