Neurol Genet 2021 Feb 8;7(1):e540. Epub 2020 Dec 8.
Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.
Objective: To alert about the wide margin of unpredictability that distribution of somatic mosaicism may have in the brain and the risk for independent epileptogenesis arising from the seemingly healthy contralateral hemisphere after complete removal of epileptogenic focal cortical dysplasia (FCD).
Methods: Clinical, EEG, MRI, histopathology, and molecular genetics in 2 patients (1 and 2) treated with focal resections and subsequent complete hemispherectomy for epileptogenic FCD due to somatic mutations. Autoptic brain study of bilateral asymmetric hemispheric dysplasia and identification of alternative allele fraction (AAF) rates for (patient 3). Read More