Epileptic encephalopathy

 
National Institutes of Health

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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IImEPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSETEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
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Papers overview

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2016
2016
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
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
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
OBJECTIVE Recent studies have elucidated causative roles for genetic abnormalities in early-onset epileptic encephalopathies… (More)
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2014
2014
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
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
Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes
The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52… (More)
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2014
2014
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
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
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
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
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
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 history of the concept of epileptic encephalopathy.
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
Pathophysiology of epileptic encephalopathies.
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
A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium… (More)
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