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Epileptic encephalopathy

 
National Institutes of Health

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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and… Expand
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Highly Cited
2016
Highly Cited
2016
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have… Expand
2016
2016
Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency
We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a… Expand
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Highly Cited
2014
Highly Cited
2014
Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes
See Martinez-Martinez et al. (doi:10.1093/brain/awu153) for a scientific commentary on this article. Carvajal-González et al… Expand
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Highly Cited
2014
Highly Cited
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… Expand
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Highly Cited
2014
Highly Cited
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… Expand
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Highly Cited
2014
Highly Cited
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… Expand
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2014
2014
Outcomes of epilepsy surgery in childhood-onset epileptic encephalopathy
PURPOSE to evaluate the outcomes and role of epilepsy surgery in children with intractable epileptic encephalopathy (EE… Expand
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Highly Cited
2013
Highly Cited
2013
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
The management of epilepsy in children is particularly challenging when seizures are resistant to antiepileptic medications, or… Expand
Highly Cited
2013
Highly Cited
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… Expand
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