PURPOSE Periventricular nodular heterotopia (PNH) is a malformation of cortical development associated with epilepsy and dyslexia. Evidence suggests that heterotopic gray matter can be functional in brain malformations and that connectivity abnormalities may be important in these disorders. We hypothesized that nodular heterotopia develop abnormal connections and systematically investigated the...

The malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs)...

Occipital epilepsies often elude diagnosis as they frequently masquerade as other seizure syndromes. Visual hallucinations are the key clinical symptoms indicating an occipital focus, but may be difficult to elicit on history, especially from children, and are not always present. When visual symptoms are not prominent, the seizure semiology and scalp EEG may lead the clinician away from conside...

Subependymal heterotopia (SEH) is a neuronal migration disorder characterized by nodules of gray matter along the lateral ventricular walls and often associated with other brain malformations. We present two cases of SEH associated with ventriculomegaly and cerebellar abnormalities diagnosed by fetal magnetic resonance imaging (MRI) at 20 and 23 weeks' gestation respectively. Fetal MRI findings...

BACKGROUND Gray matter heterotopia (GMH) is a malformation of the central nervous system characterized by interruption of normal neuroblasts migration between the 7(th) and 16(th) week of fetal development. The aim of the study was the analysis of clinical symptoms, prevalence rate and the most common concurrent central nervous system (CNS) developmental disorders as well as assessment of chara...

The use of laminar airflow rooms and a life island unit for comprised patients was evaluated. Six patients spent a total of 170 days in the laminar airflow rooms and 112 days in the life island unit, and none acquired any exogenous infection. Patients were febrile for 7 out of 170 days (4.1%) in the laminar airflow rooms and 4 out of 112 days (3.6%) in the life island unit. No significant diffe...

Increased encephalization, or larger brain volume relative to body mass, is a repeated theme in vertebrate evolution. Here we present an extensive sampling of relative brain sizes in fossil and extant taxa in the mammalian order Carnivora (cats, dogs, bears, weasels, and their relatives). By using Akaike Information Criterion model selection and endocranial volume and body mass data for 289 spe...

BACKGROUND X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. This is an X-linked dominant condition where most affected patients are female and present with seizures. Extra-cerebral features such as cardiac abnormalities and thrombocytopenia have also been documented. Loss of function mutations in filamin A are predi...