47 patients with FLNA associated periventricular nodular heterotopia

Background Heterozygous loss of function mutations within the FilaminA gene in Xq28are the most frequent cause of bilateral neuronal periventricular nodular heterotopia(PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable ageof onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral findings have been observed and may help to establish the diagnosis including patent ductus arteriosusBotalli, progressive dystrophic cardiac valve disease and aortic dissection, chronic obstructive lung diseaseor chronic constipation. Genotype-phenotype correlations could not yet be established.