Publications by authors named "E Roulet-Perez"

Encephalitis is a rare and potentially fatal manifestation of herpes simplex type 1 infection. Following genome-wide genetic analyses, we identified a previously uncharacterized and very rare heterozygous variant in the E3 ubiquitin ligase WWP2, in a 14-month-old girl with herpes simplex encephalitis. The p.

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Precision medicine aims to understand the mechanisms of diseases and to find treatments adapted to each individual or group of patients, on the basis of biological characteristics and environment. It uses new tools based on digital technologies. Narrative medicine was theorized, in the 2000s, as a reaction to the increasing technicality and the notion of a lack of human relations in care: It focuses on recognizing the essential place of the patient's experience of illness and life history in the diagnosis and management of diseases as well as in the training of caregivers.

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Refractory subhemispheric epilepsy has been traditionally treated by resection. The last few decades have seen the emergence of disconnective techniques, for both hemispheric and subhemispheric disease. The aim of this study was to describe the technique for a disconnective surgery for large epileptogenic lesions involving the central (perirolandic cortices), parietal, and occipital lobes.

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Article Synopsis
  • The study investigates brain differences in children with epilepsy and myoclonic atonic seizures (EMAS) compared to healthy peers, focusing on brain structure and cognitive outcomes years after the onset of seizures.
  • Fourteen EMAS patients were compared with 14 matched controls by analyzing brain anatomy through specific imaging techniques, with patients categorized into outcome groups based on seizure control and cognitive functioning.
  • Results showed that EMAS patients had reduced brain volumes and thickness in certain regions (especially the frontal lobe and cerebellum), correlating with poorer cognitive outcomes, while those with better seizure control exhibited brain structures similar to healthy controls.
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