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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13

Known as: EIEE13 
National Institutes of Health

Related topics

Related topics

8 relations
Abnormal coordinationAutistic DisorderAutosomal dominant inheritanceEpileptic encephalopathy

Papers overview

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Highly Cited
2018
Highly Cited
2018
The phenotype of SCN8A developmental and epileptic encephalopathy
Objective To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM… 
Highly Cited
2017
Highly Cited
2017
Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy
Significance Patients with early infantile epileptic encephalopathy experience severe seizures and cognitive impairment and are… 
Review
2015
Review
2015
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early… 
Highly Cited
2014
Highly Cited
2014
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
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