Benova, B; Jacques, TS; (2019) Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery. Brain Pathology , 29 (4) pp. 473-484. 10.1111/bpa.12686.

Preview

Text Benova_et_al-2018-Brain_Pathology.pdf - Accepted Version Download (507kB) | Preview

Abstract

Malformations of cortical development (MCD) comprise a broad spectrum of developmental brain abnormalities. Patients presenting with MCDs often suffer from drug resistant focal epilepsy, and some become candidates for epilepsy surgery. Their likelihood of achieving freedom from seizures, however, remains uncertain, and depends in a major part on the underlying pathology. Tissue samples obtained in epilepsy surgery form the basis of definite histopathological diagnosis; however, new molecular-genetic methods have not yet been implemented in diagnostic process for MCD cases. Furthermore, it has not been completely understood how the underlying pathology affects patients' outcomes in epilepsy surgery. We performed a systematic literature review of studies describing both histopathological and molecular genetic findings in MCD, along with studies on epilepsy surgery outcomes. We aimed to correlate the genetic causes with the underlying morphological abnormalities in focal cortical malformations and to stress the importance of underlying biology for patient management and counselling. From the summarized findings of multiple authors, it is obvious that MCD may have a diverse genetic background despite similar or even identical histopathological picture. Even though most of their molecular genetic findings converge on various levels of the PI3K/AKT/mTOR pathway, the exact mechanisms underlying MCD formation have not yet been completely described or indeed how this pathway generates a diverse range of histological abnormalities. Based on our findings, we therefore propose that all patients diagnosed and operated for drug resistant epilepsy should have an integrated molecular and pathological diagnosis similar to the current practice in brain tumour diagnostic processthat might lead to more accurate diagnosis and effective stratification of patients undergoing epilepsy surgery. This article is protected by copyright. All rights reserved.

Download activity - last month

Export as XMLCSVJSON

Download activity - last 12 months

Export as CSVXMLJSON

Downloads by country - last 12 months

Export as JSONCSVXML

Archive Staff Only

View Item