PNH may be associated with additional brain anomalies such as cerebellar vermis hypoplasia, and is the most common MCD found in association with hippocampal sclerosis.24 Unilateral or focal PNH may occur in combination with subcortical nodular heterotopia (SNH) or in association with other MCDs such as PMG.3,108,109 Typical bilateral PNH may be associated with mild-to-moderate hypoplasia of the corpus

callosum or cerebellum, the latter primarily involving the vermis. Usually, PNH is limited to the periventricular region but may occasionally form a larger mass that may deform or displace the lateral ventricle. Figure 7. Imaging features of periventricular Inhibitors,research,lifescience,medical nodular heterotopia. Axial T1 weighted MRI showing too patients with Inhibitors,research,lifescience,medical bilateral

periventricular nodular heterotopia, manifest by nodules of tissue with identical signal to cortical gray matter located in the periventricular … Mutations in the FLNA gene were identified in families with multiple affected members with bilateral periventricular nodular heterotopia.110 FLNA is located on the long arm Inhibitors,research,lifescience,medical of the X-chromosome, and mutations in males are thought to be lethal, thus explaining the female predominance of PNH. FLNA may be necessary for efficient cell motility,111 possibly by promoting actin networks at the leading edge of motile cells or by keeping cells attached to supporting cells until the necessary signal for cell locomotion. Defects in these functions may account for defective Inhibitors,research,lifescience,medical initiation of neuronal migration in bilateral

PNH.110 Although approximately 80% of familial cases of PNH have FLNA mutations, mutations have been detected in only approximately 20% of sporadic PNH patients.112 Those with mutations usually have a typical bilateral PNH pattern,113 with most patients with atypical PNH not having FLNA mutations.112,114 Inhibitors,research,lifescience,medical An autosomal recessive form of PNH with microcephaly has been found to be due to mutations in the ARFGEF2 gene in a small number of children from consanguineous parents.115 Bilateral PNH is also described in association with structural abnormalities of chromosome 5p.116 It is likely that PNH is a genetically heterogeneous disorder secondary to abnormalities isothipendyl of genes involved in neuroblast proliferation or initiation of neuroblast, migration. MCDs as a consequence of abnormal cortical organization Polymicrogyria Polymicrogyria (PMG) refers to a cerebral cortex with excessive microscopic gyration, and is probably one of the most common of the MCDs. SCH727965 research buy Macroscopically PMG appears as an irregular cortical surface. The distribution of PMG varies significantly from unilateral forms, to bilateral symmetric and asymmetric forms.