PMID: 9545186Apr 17, 1998Paper

Trisomy 12p and epilepsy with myoclonic absences

Brain & Development
M EliaM Cammarata

Abstract

We report the case of a 6-year-2-month-old female affected by trisomy 12p syndrome. Seizures were typical myoclonic absences from both the clinical and EEG points of view. Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy.

References

Apr 7, 1977·Human Genetics·B BiedermanD Schiff
Jun 1, 1992·Journal of Medical Genetics·R HutchinsonL Voullaire
Feb 1, 1973·The Journal of Pediatrics·I A Uchida, C C Lin
Jul 1, 1981·European Journal of Pediatrics·S Stengel-RutkowskiJ Stene

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Citations

Oct 3, 2012·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·William B Gallentine, Mohamad A Mikati
May 5, 2010·Italian Journal of Pediatrics·Giovanni Sorge, Anna Sorge
Feb 5, 2014·Brain & Development·Ajith CherianSandeep Padmanabhan
Dec 2, 2006·Pediatric Neurology·Young Ok KimTae Woong Chung
Apr 22, 2009·Genetic Testing and Molecular Biomarkers·Daniela Gambel BenussiVanna Pecile
Dec 21, 2004·Journal of Child Neurology·Salvatore GrossoPaolo Balestri
May 24, 2021·Seizure : the Journal of the British Epilepsy Association·Josefina de la JaraJuan Moya-Vilches

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