17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature

Array comparative genomic hybridization is now a powerful tool to investigate patients with multiple congenital abnormalities and intellectual/motor impairment, and genomic imbalances are identified in a growing number of children with intellectual disability. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. Here, we report on the diagnosis of a 17p13.1 microdeletion of 829 kb in an 8-year-old girl presenting with profound cognitive disability, psychomotor delay, facial dysmorphisms, and refractory epilepsy. This deletion comprises 44 genes, including 8 OMIM morbid genes. We discuss genetic, clinical, and epileptic features comparing our patient with those previously reported in the literature

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

none44noOBJECTIVE: To describe the clinical, neuropsychological, and psychopathologic features of a cohort of children with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy at time of recruitment and through the first month. The selected population will be followed for 2-5 years after enrollment to investigate the epilepsy course and identify early predictors of drug resistance. METHODS: In this observational, multicenter, nationwide study, children (age 1 month-12.9 years) with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy were consecutively enrolled in 15 Italian tertiary childhood epilepsy centers. Inclusion criteria were as follows: (1) diagnosis of symptomatic focal epilepsy due to acquired and developmental etiologies, and presumed symptomatic focal epilepsy; (2) age at diagnosis older than 1 month and 3 to 6 years, and >6 years. Clinical, electroencephalography (EEG), neuroimaging, and neuropsychological variables were identified for statistical analyses. RESULTS: Two hundred fifty-nine children were enrolled (116 female and 143 male). Median age: 4.4 years (range 1 month-12.9 years); 46.0% (n = 119) of children were younger than 3 years, 24% (61) from 3 to 6 years of age, and 30% (79) older than 6 years. Neurologic examination findings were normal in 71.8%. Brain magnetic resonance imaging (MRI) was abnormal in 59.9%. Children age ≤3 years experienced the highest seizure frequency in the first month after recruitment (p < 0.0001). Monotherapy in the first month was used in 67.2%. Cognitive tests at baseline revealed abnormal scores in 30%; behavioral problems were present in 21%. At multivariate analysis, higher chances to exhibit more than five seizures in the first month after epilepsy onset was confirmed for younger children and those with temporal lobe epilepsy. SIGNIFICANCE: In this prospective cohort study, an extensive characterization of epilepsy onset in children with symptomatic or presumed symptomatic focal epilepsies is reported in relation to the age group and the localization of the epileptogenic zone.noneVecchi, Marilena; Barba, Carmen; De Carlo, Debora; Stivala, Micol; Guerrini, Renzo; Albamonte, Emilio; Ranalli, Domiziana; Battaglia, Domenica; Lunardi, Giada; Boniver, Clementina; Piccolo, Benedetta; Pisani, Francesco; Cantalupo, Gaetano; Nieddu, Giuliana; Casellato, Susanna; Cappanera, Silvia; Cesaroni, Elisabetta; Zamponi, Nelia; Serino, Domenico; Fusco, Lucia; Iodice, Alessandro; Palestra, Filippo; Giordano, Lucio; Freri, Elena; De Giorgi, Ilaria; Ragona, Francesca; Granata, Tiziana; Fiocchi, Isabella; Bova, Stefania Maria; Mastrangelo, Massimo; Verrotti, Alberto; Matricardi, Sara; Fontana, Elena; Caputo, Davide; Darra, Francesca; Dalla Bernardina, Bernardo; Beccaria, Francesca; Capovilla, Giuseppe; Baglietto, Maria Pia; Gagliardi, Alessandra; Vignoli, Aglaia; Canevini, Maria Paola; Perissinotto, Egle; Francione, StefanoVecchi, Marilena; Barba, Carmen; DE CARLO, Debora; Stivala, Micol; Guerrini, Renzo; Albamonte, Emilio; Ranalli, Domiziana; Battaglia, Domenica; Lunardi, Giada; Boniver, Clementina; Piccolo, Benedetta; Pisani, Francesco; Cantalupo, Gaetano; Nieddu, Giuliana; Casellato, Susanna; Cappanera, Silvia; Cesaroni, Elisabetta; Zamponi, Nelia; Serino, Domenico; Fusco, Lucia; Iodice, Alessandro; Palestra, Filippo; Giordano, Lucio; Freri, Elena; De Giorgi, Ilaria; Ragona, Francesca; Granata, Tiziana; Fiocchi, Isabella; Bova, Stefania Maria; Mastrangelo, Massimo; Verrotti, Alberto; Matricardi, Sara; Fontana, Elena; Caputo, Davide; Darra, Francesca; Dalla Bernardina, Bernardo; Beccaria, Francesca; Capovilla, Giuseppe; Baglietto, Maria Pia; Gagliardi, Alessandra; Vignoli, Aglaia; Canevini, Maria Paola; Perissinotto, Egle; Francione, Stefan