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Children with focal sharp waves: clinical and genetic aspects
H Doose1, B Brigger-Heuer, B Neubauer
1Epilepsy Center, Epilepsy Research Unit, Raisdorf, Germany.
Insights
This study reveals that genetic factors for benign focal sharp waves in children
Area of Science:
- Pediatric Neurology
- Clinical Neurophysiology
- Medical Genetics
Background:
- Benign focal sharp waves on electroencephalogram (EEG) are observed in children.
- Understanding the genetic basis and clinical spectrum is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the clinical manifestations in children with benign focal sharp waves.
- To explore the genetic background of clinical and EEG findings in a family study.
Main Methods:
- Evaluated 147 children with and without seizures, meeting EEG criteria for benign focal sharp waves.
- Included siblings for EEG investigation and conducted family questionnaires on seizure history.
Main Results:
- Observed various seizure types including febrile convulsions (FC) and rolandic seizures; neonatal seizures were overrepresented.
- Family data suggested maternal transmission of FC liability, with affected relatives more likely to have FC.
- EEG showed focal sharp waves in siblings, but no clear relation to clinical symptoms; generalized genetic patterns were common.
Conclusions:
- The genetic anomaly for focal sharp waves exhibits significant phenotypic variability.
- Clinical and EEG findings support a multifactorial pathogenesis for epilepsies with benign focal sharp waves.
Purpose:
To investigate the spectrum of clinical manifestations in children with benign focal sharp waves in the EEG to gain further insight into the genetic background of clinical and EEG symptomatology in a family study.
Methods:
All 147 children (134 with seizures, 13 without) met the following inclusion criteria: (a) at least one EEG with focal sharp waves characteristic of benign partial epilepsies, and (b) at least 1 sibling investigated by EEG. The families were questioned orally or in writing regarding the occurrence of seizures. Patients' records were evaluated by a standardized scheme.
Results:
The following types of seizures occurred: febrile convulsions (FC), afebrile generalized tonic-clonic seizures (GTCS), simple and (rarely) complex partial seizures; and rolandic seizures in the strict sense. Neonatal seizures were overrepresented (6%); there were no indications of lesional causes. FC occurred in 38 children (26%). As compared with unselected cases of FC, complex symptoms were overrepresented. Family data suggested a maternal preponderance in the transmission of FC liability. Affected relatives of FC probands manifested FC more often than did relatives of probands without FC. Families of 32 patients with typical rolandic seizures (24% of the 134 probands with seizures) showed no aggregation of rolandic epilepsy, but did show variable seizure types. In the entire sample, EEG investigations showed focal sharp waves in 11% of siblings aged 2-10 years. No relation existed between clinical symptomatology and sharp wave findings in siblings. In 66% of probands, the EEG disclosed generalized genetic patterns. Siblings with generalized spike-waves (sw) and/or theta rhythm had focal sharp waves more often than those without sw and/or theta rhythm.
Conclusions:
The phenotypic expression of the genetic anomaly underlying focal sharp waves shows considerable variability. The clinical and EEG findings are in agreement with a multifactorial pathogenesis of epilepsies with "benign" focal epileptiform sharp waves.