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Published on: June 11, 2020
Neonatal seizures with tonic clonic sequences and poor developmental outcome
Bernhard Schmitt1, Gabriele Wohlrab, Thomas Sander
1University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland. bernhard.schmitt@kispi.unizh.ch
Epilepsy Research
|July 26, 2005
Summary
Rare tonic-clonic seizures in newborns, often drug-refractory, were identified. Some cases linked to KCNQ2 gene mutations suggest a connection to benign familial neonatal convulsions.
Area of Science:
- Neonatal Neurology
- Clinical Epilepsy
- Neurogenetics
Background:
- Tonic-clonic seizures are uncommon in neonates and not currently classified.
- A specific electro-clinical pattern of tonic-clonic or tonic-myoclonic seizures in neonates was observed.
Purpose of the Study:
- To describe and classify rare tonic-clonic neonatal seizures.
- To investigate the electro-clinical features, outcomes, and potential genetic links of these seizures.
Main Methods:
- Retrospective video-EEG analysis of 105 neonates with seizures.
- Clinical data review including treatment response, neurodevelopmental outcomes, and genetic analysis.
Main Results:
- Six neonates presented with tonic-clonic or tonic-myoclonic seizures.
- Two cases had pyridoxine-dependent seizures; four were drug-refractory with distinct electro-clinical patterns.
- One drug-refractory case showed a de novo KCNQ2 mutation, linking these seizures to benign familial neonatal convulsions.
Conclusions:
- Tonic-clonic neonatal seizures represent a distinct entity, potentially linked to KCNQ2 mutations.
- These seizures can be severe, leading to poor neurodevelopmental outcomes, even if seizure-free.
- Further research into the genetic basis of refractory neonatal seizures is warranted.
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