Eating‐induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies

Epileptic Disorders - Tập 14 Số 4 - Trang 414-417 - 2012
Luca De Palma1,2, Clementina Boniver, Matteo Cassina3, Irene Toldo, Margherita Nosadini, Maurizio Clementi3, Stefano Sartori
1Neurology Department, Grenoble University Hospital, Grenoble, France
2Paediatric Neurology and Neurophysiology Unit Department of Women's and Children's Health University of Padua Padua France
3Clinical Genetics Unit Department of Women's and Children's Health University of Padua Padua Italy

Tóm tắt

ABSTRACT

Duplication of MECP2 causes a recently described X‐linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity. Recently, the associated seizure semiology and interictal EEG features have been increasingly described, whereas ictal electroclinical features remain poorly defined. We report the case of a boy carrying a maternally‐inherited MECP2 duplication and describe the video‐EEG sequence of a cluster of eating‐induced spasms, the only epileptic manifestation of the patient. This report expands our knowledge of the epileptic phenotype of MECP2 duplication syndrome and may contribute to a better definition and comprehension of the electroclinical spectrum of patients affected by this disease. It also supports the hypothesis that in some genetic epilepsies, the electro‐clinical profile can correlate with the dysfunction of limited cortical regions despite the presence of a genetic mutation over the entire brain. [Published with video sequences]

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