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Seizures and EEG pattern in Kabuki syndrome
Monica Lodi1, Rosanna Chifari, Cecilia Parazzini
1Epilepsy Center, Department of Neurosciences, Fatebenefratelli e Oftalmico Hospital, Milano, Italy.
Brain & Development
|January 12, 2010
Summary
Kabuki syndrome (KS) patients with epilepsy often exhibit focal seizures, frequently originating from the fronto-central area. A consistent interictal EEG pattern was observed in most patients, indicating a specific electroclinical profile in KS epilepsy.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Kabuki syndrome (KS) is a rare genetic disorder featuring congenital abnormalities and central nervous system involvement.
- Mental retardation is common in KS, and epilepsy is frequently reported, though a distinct electroclinical pattern remains undescribed.
Purpose of the Study:
- To describe the electroclinical features of epilepsy in eight non-Japanese patients with Kabuki syndrome.
- To identify any characteristic seizure types, EEG patterns, or clinical outcomes associated with KS epilepsy.
Main Methods:
- Analysis of seizure characteristics, electroencephalogram (EEG) patterns, and clinical outcomes in eight KS patients.
- Detailed examination of interictal EEG findings and seizure semiology.
Main Results:
- All eight patients presented with focal seizures, with two experiencing frontal epileptic status.
- A shared interictal EEG pattern was observed in seven patients, characterized by fronto-central biphasic spikes/sharp waves followed by slow waves.
- The natural course of seizures in these patients was favorable.
Conclusions:
- A peculiar and homogeneous electroclinical pattern is evident in Kabuki syndrome epilepsy.
- Focal seizures, particularly with a fronto-central origin, are characteristic of epilepsy in KS patients.
- The findings suggest a specific EEG signature associated with KS epilepsy.
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