Metabotropic glutamate receptor type 5 (mGluR5) abnormalities have been described in tissue resected from epilepsy patients with focal cortical dysplasia (FCD). To determine if these abnormalities could be identified in vivo, we investigated mGluR5 availability in 10 patients with focal epilepsy and an MRI diagnosis of FCD using positron-emission tomography (PET) and the radioligand [11C]ABP688...

The human brain is a highly connected and integrated system. Local stroke lesions can evoke reorganization in multiple functional networks. However, the temporally-evolving patterns in different functional networks after stroke remain unclear. Here, we aimed to investigate the dynamic evolutionary patterns of functional connectivity density (FCD) and strength (FCS) of the brain after subcortica...

Focal cortical dysplasia (FCD) is a frequent cause of medically refractory partial epilepsy. The visual identification of FCD lesions on magnetic resonance images (MRI) is a challenging task in standard radiological analysis. Quantitative image analysis which tries to assist in the diagnosis of FCD lesions is an active field of research. In this work we investigate the potential of different te...

BACKGROUND Associations between electrophysiological and histological findings might provide an insight into the epileptogenicity of mild focal cortical dysplasia (FCD) in patients with temporal lobe epilepsy (TLE) and a dual pathology. SUBJECTS AND METHODS A total of 22 patients with pharmacoresistant TLE were included in the study, 16 of them with histologically confirmed hippocampal sclero...

PURPOSE Fuchs corneal dystrophy (FCD) is an autosomal dominant disease of the corneal endothelium with variable penetrance and expressivity. Recently, rs613872, an intronic variation of TCF4 associated with late-onset FCD, was reported. The present study was undertaken to examine this association in our cohort of FCD patients, to assess the significance of this finding, and to investigate the c...

One of the least well understood DNA repair processes in cells is the repair of DNA interstrand cross-links (ICLs) which present a major obstacle to DNA replication and must be repaired or bypassed to allow fork progression. Fanconi anemia (FA) is an inherited genome instability syndrome characterized by hypersensitivity to ICL damage. Central to the FA repair pathway is FANCD2 that is mono-ubi...

Rasmussen's encephalitis (RE) is an inflammatory, probably autoimmune disorder manifested by refractory seizures and progressive deterioration of one cerebral hemisphere [1]. Here, we describe the unfortunate history of a girl with a progressive disorder which, upon clinical, neuroimaging, and histopathological evaluation, proved to be bilateral RE associated with type II focal cortical dysplas...

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 pati...

OBJECTIVE Focal cortical dysplasia (FCD) is able to generate an intrinsic pathological EEG activity characterized by a continuous or near-continuous spiking. Different patterns of discharge were described. We examined quantitatively the distribution of the intracerebral FCD patterns in relation to sleep in order to investigate whether this activity is independent of thalamocortical influences. ...

Focal cortical dysplasia (FCD) is the most common cause of pediatric epilepsy and the third most common cause in adults with treatment-resistant epilepsy. Surgical resection of the lesion is the most effective treatment to stop seizures. Technical advances in MRI have revolutionized the diagnosis of FCD, leading to high success rates for resective surgery. However, 45% of histologically confirm...