Objective The purpose of this study was to better delineate the clinical spectrum of periventricular nodular heterotopia (PNH) in a large patient population to better understand social support in people with PNH and epilepsy in west China. Specifically, this study aimed to relate PNH subtypes to clinical or epileptic outcomes and epileptic discharges by analyzing anatomical features. Methods The study included 70 patients with radiologically confirmed nodular heterotopias and epilepsy. We also recruited healthy controls from nearby urban and rural areas. People with PNH and epilepsy and healthy controls were gender-and age-matched. Two-sided Chi-square test and Fisher's exact t-test were used to assess associations between the distribution of PNHs and specific clinical features. Results Based on imaging data, patients were subdivided into three groups: (a) classical (bilateral frontal and body, n=25), (b) bilateral asymmetrical or posterior (n=9) and (c) unilateral heterotopia (n=36). Most patients with classical heterotopia were females, but were mostly seizure-free. Patients with unilateral heterotopia were prone to develop refractory epilepsy. Conclusions Each group's distinctive genetic mutations, epileptic discharge patterns and overall clinical outcomes confirm that the proposed classification system is reliable. These findings could not only be an indicator of a more severe morphological and clinical phenotype, but could also have clinical implications with respect to the epilepsy management and optimization of therapeutic options.

Citation： LIU Wenyu, AN Dongmei, ZHOU Dong. Retrospective study of seventy patients with periventricular nodular heterotrophic and epilepsy in west China. Journal of Epilepsy, 2017, 3(6): 459-464. doi: 10.7507/2096-0247.20170072 Copy