Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu, Catrinel Iliescu, Maria Dobre, Diana Barca, Oana Tarta-Arsene, Cristina Motoescu, Alice Dica, Carmen Sandu, Cristina Anghelescu, Dana Craiu, Aurora Arghir
Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems...
January 2022: Experimental and Therapeutic Medicine