TY - JOUR
T1 - Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome
T2 - Insights into pathogenesis of genetic epilepsies
AU - De Palma, Luca
AU - Boniver, Clementina
AU - Cassina, Matteo
AU - Toldo, Irene
AU - Nosadini, Margherita
AU - Clementi, Maurizio
AU - Sartori, Stefano
PY - 2012/12
Y1 - 2012/12
N2 - 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, where as 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.
AB - 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, where as 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.
KW - CGH array
KW - Eating-induced epileptic spasm
KW - Focal seizures
KW - MECP2 duplication syndrome
KW - Reflex epilepsy
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U2 - 10.1684/epd.2012.0546
DO - 10.1684/epd.2012.0546
M3 - Article
C2 - 23248047
AN - SCOPUS:84874641391
VL - 14
SP - 414
EP - 417
JO - Epileptic Disorders
JF - Epileptic Disorders
SN - 1294-9361
IS - 4
ER -