Trisomy 12p and epilepsy with myoclonic absences.
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.
Elia
M
M
Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy. melia@oasi.en.it
Musumeci
S A
SA
Ferri
R
R
Cammarata
M
M
D001921:Brain / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004832:Epilepsy, Absence / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000276:immunology / Q000473:pathology; D008279:Magnetic Resonance Imaging; D014314:Trisomy