期刊
LANCET NEUROLOGY
卷 15, 期 3, 页码 304-316出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/S1474-4422(15)00250-1
关键词
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资金
- UK Medical Research Council Research Training Fellowship
- UK Wellcome Intermediate Clinical Fellowship
- Australian Gustav Nossal National Health and Medical Research Council Postgraduate Scholarship
- Clifford PhD Scholarship
- European Union
- UK National Institute for Health Research
- Action Medical Research
- Sparks
- Great Ormond Street Hospital Children's Charity
- Australian National Health and Medical Research Council
- Action Medical Research [1722] Funding Source: researchfish
- Great Ormond Street Hospital Childrens Charity [ICH1031] Funding Source: researchfish
- Medical Research Council [MR/L001497/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0515-10073] Funding Source: researchfish
- MRC [MR/L001497/1] Funding Source: UKRI
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 electrodinical 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 phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders.
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