A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia

To the Editor: Periventricular nodular heterotopias (PNHs) represent a malformation of cortical development caused by an improper neuronal migration during forebrain formation.[1,2] There is a wide spectrum of anatomical and clinical presentations of PNH, ranging from asymptomatic small unilateral or bilateral nodules to extensive agglomerates of heterotopia lining the lateral ventricles with epilepsy and intellectual disabilities. The mutations in X-linked gene, filamin A (FLNA) gene, were identified in approximately 100% of familial PNHs and 25% of sporadic cases.[2,3] Here, we reported a novel frameshift mutation of FLNA gene in a Chinese family with PNH.