Epileptic encephalopathy

 
National Institutes of Health

Papers overview

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2016
2016
BACKGROUND Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic… (More)
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2016
2016
OBJECTIVE Recent studies have elucidated causative roles for genetic abnormalities in early-onset epileptic encephalopathies… (More)
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2014
2014
Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of… (More)
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Highly Cited
2014
Highly Cited
2014
The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52… (More)
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2014
2014
OBJECTIVE Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies… (More)
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2014
2014
Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by… (More)
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Highly Cited
2013
Highly Cited
2013
PURPOSE The management of epilepsy in children is particularly challenging when seizures are resistant to antiepileptic… (More)
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Review
2013
Review
2013
The first description of epileptic encephalopathies dates back to Dr. West who, in 1857, described the syndrome that took his… (More)
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Review
2013
Review
2013
The application of metabolic imaging and genetic analysis, and now the development of appropriate animal models, has generated… (More)
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2013
2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium… (More)
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