ObjectiveThe 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. MethodsThe 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. ResultsBased 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. ConclusionsEach 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.
ObjectiveTo investigate the application of stereoelectroencephalography (SEEG) in the refractory epilepsy related to periventricular nodular heterotopia (PNH). MethodsTen patients with drug-resistant epilepsy related to PNHs from Guangdong Sanjiu Brain Hospital and the First Affiliated Hospital of Jinan University from April 2017 to February 2021 were studied. Electrodes were implanted based on non-invasive preoperative evaluation. Then long-term monitoring of SEEG was carried out. The patterns of epileptogenic zone (EZ) were divided into four categories based on the ictal SEEG: A. only the nodules started; B. nodules and cortex synchronous initiation; C. the cortex initiation with early spreading to nodules; D. only cortex initiation. All patients underwent SEEG-guided radiofrequency thermocoagulation (RFTC), with a follow-up of at least 12 months. ResultsAll cases were multiple nodules. Four cases were unilateral and six bilateral. Eight cases were distributed in posterior pattern, and one in anterior pattern and one in diffused pattern, respectively. Seven patients had only PNH (pure PNH) and three patients were associated with other overlying cortex malformations (PNH plus). The EZ patterns of all cases were confirmed by the ictal SEEG: six patients were in pure type A, two patients were in pure type B, one patient in type A+B and one in type A+B+C, respectively. In eight patients SEEG-guided RF-TC was targeted only to PNHs; and in two patients RFTC was directed to both heterotopias and related cortical regions. The mean follow up was (33.4±14.0) months (12 ~ 58 months). Eight patients (in pure type A or type A included) were seizure free. Two patients were effective. None of the patients had significant postoperative complications or sequelae. ConclusionThe epileptic network of Epilepsy associated with nodular heterotopia may be individualized. Not all nodules are always epileptogenic, the role of each nodule in the epileptic network may be different. And multiple epileptic patterns may occur simultaneously in the same patient. SEEG can provide individualized diagnosis and treatment, be helpful to prognosis.