Ontology highlight
ABSTRACT:
SUBMITTER: Dalen Meurs-van der Schoor C
PROVIDER: S-EPMC4271583 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Dalen Meurs-van der Schoor Charlotte C van Weissenbruch Mirjam M van Kempen Marjan M Bugiani Marianna M Aronica Eleonora E Ronner Hanneke H Vermeulen R Jeroen RJ
Frontiers in pediatrics 20141219
<h4>Background</h4>Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.<h4>Methods</h4>We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus.<h4>Results</h4>This case report provides electroencephalogram (EEG), MRI, genetic analysis, and neuropathological data. Genetic analysis revealed a de novo heterozygous mis ...[more]