Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study
| Autor: | Ursula Geronzi, Salvatore Grosso, Federica Lotti |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty MECP2 duplication syndrome Electroencephalography MECP2 03 medical and health sciences Epilepsy 0302 clinical medicine Developmental Neuroscience Mental Retardation medicine Humans Child Atonic seizure Video-EEG recording medicine.diagnostic_test business.industry Seizure types General Medicine X-Linked medicine.disease Hypotonia nervous system diseases Pedigree Mental Retardation X-Linked Pediatrics Perinatology and Child Health Progressive spasticity Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Popis: | MECP2 duplication syndrome (MECP2 DS) is an X-linked disorder characterized by early-onset hypotonia, poor speech development, recurrent respiratory infections, epilepsy and progressive spasticity. Epilepsy occurs in more than 50% of the affected patients. Generalized tonic-clonic seizures (GTCS) are the most common seizure-type described but atonic seizures, absences and myoclonic seizures have also been reported. Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated. Here we report on two male siblings carrying a maternally-inherited MECP2 duplication. Patients underwent several EEG recordings and long-lasting video-EEG monitoring. The most represented seizure types were myoclonic and atonic seizures. GTCS were rarely observed. In patients, we found a slowing of the background activity with multifocal paroxysmal activity, prominent on the frontal areas. In conclusion, our observations seem to suggest that MECP2 syndrome seem to have a peculiar epileptic pattern mainly characterized by the occurrence of myoclonic seizures, the recognition of which is important in order to undertake an appropriate treatment. |
| Databáze: | OpenAIRE |
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