Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

Epilepsia
Aglaia VignoliMaria Paola Canevini

Abstract

Duplications encompassing the MECP2 gene on the Xq28 region have been described in male patients with moderate to severe mental retardation, absent speech, neonatal hypotonia, progressive spasticity and/or ataxia, recurrent severe respiratory infections, gastrointestinal problems, mild facial dysmorphisms (midface hypoplasia, depressed nasal bridge, large ears) and epilepsy. Epilepsy can occur in >50% of cases, but the types of seizures and the electroclinical findings in affected male individuals have been poorly investigated up to the present. Herein we describe eight patients with MECP2 duplication syndrome and a specific clinical and electroencephalographic pattern. Array CGH of genomic DNA from the probands was performed, and an Xq28 duplication ranging from 209 kb to 6.36 Mb was found in each patient. Electroencephalography studies and clinical and seizure features of all the patients were analyzed. We found that epilepsy tended to occur between late childhood and adolescence. Episodes of loss of tone of the head and/or the trunk were the most represented seizure types. Generalized tonic-clonic seizures were rarely observed. The typical interictal EEG pattern showed abnormal background activity, with generalized slow spik...Continue Reading

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References

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Citations

Mar 5, 2013·Journal of Autism and Developmental Disorders·S U PetersM B Ramocki
Sep 25, 2012·Epilepsia·Renzo Guerrini, Elena Parrini
Apr 8, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Roseline CaumesStéphane Auvin
Oct 1, 2015·American Journal of Medical Genetics. Part a·Salima El ChehadehLaurent Guibaud
Mar 29, 2014·Seizure : the Journal of the British Epilepsy Association·Fabio A NascimentoDanielle M Andrade
Feb 19, 2013·Epilepsy Research·Caroline LundKaja Kristine Selmer
Feb 28, 2015·Journal of Clinical Immunology·Michael BauerHorst von Bernuth
Jun 2, 2016·Clinical Genetics·Z LimH Leonard
Apr 27, 2018·American Journal of Medical Genetics. Part a·Giovanni NeriRoger E Stevenson
Apr 30, 2014·American Journal of Medical Genetics. Part a·Wen-Hann TanCharles A Williams
Jun 3, 2021·International Journal of Molecular Sciences·Kirill SmirnovOlga Sysoeva
Sep 7, 2021·Journal of Child Neurology·Jocelyn LorenzoAndrea Lowden

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