Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

ABSTRACT:

Background

Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.

Methods

We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus.

Results

This case report provides electroencephalogram (EEG), MRI, genetic analysis, and neuropathological data. Genetic analysis revealed a de novo heterozygous missense mutation in the KCNQ2 gene, which encodes a subunit of a voltage-gated potassium channel. KCNQ2 gene mutation is associated with intractable neonatal seizures. EEG, MRI, data as well as mutation analysis have been described in other KCNQ2 cases. Post-mortem neuropathological investigation reve

SUBMITTER: Dalen Meurs-van der Schoor C 

PROVIDER: S-EPMC4271583 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature