Publications by authors named "M Muxfeldt Bianchin"

Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.

View Article and Find Full Text PDF
Article Synopsis
  • Epilepsy surgery is effective for patients with drug-resistant epilepsy, but many are not referred for necessary evaluation and monitoring.
  • The CASES online tool was developed to assist physicians in making referrals for patients who might benefit from epilepsy surgery.
  • In a study with 211 patients, CASES identified 59.6% as candidates for surgical assessment, highlighting factors like seizure frequency and medication trials as important for referral decisions.
View Article and Find Full Text PDF

Purpose: To evaluate the impact of depressive symptoms on the subjective perception of quality of life in patients with drug-resistant epilepsy (DRE) after surgical treatment for seizures.  Methods: A case-control study with DRE patients who received surgical treatment (n=19) and matched non-operated patients (n=23). We assessed the quality of life using the Subjective Handicap of Epilepsy (SHE) scale, alongside measuring depressive symptoms using the Beck Depression Inventory (BDI).

View Article and Find Full Text PDF

Background:  Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies.

View Article and Find Full Text PDF

Purpose: Drug-resistant epilepsy affects a substantial proportion (30-40 %) of patients with epilepsy, often necessitating video-electroencephalography (video-EEG) monitoring. In 2016, Sauro et al. introduced a set of measures aimed at improving the quality and safety indicators reported in video-EEG evaluations.

View Article and Find Full Text PDF