Two Novel Variants in the and Genes in Italian Patients with Febrile Seizures.

Background: Febrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs.

Secondary Multiple Evanescent White Dot Syndrome in a patient with North Carolina Macular Dystrophy.

Purpose: To describe a novel case of secondary multiple evanescent white dot syndrome in a patient with North Carolina Macular Dystrophy (NCMD).

Methods: The patient was evaluated with ultra-widefield color and autofluorescence imaging, fluorescein angiography, and spectral-domain optical coherence tomography.

Results: A 43-year-old man with longstanding blurred vision in both eyes acutely developed glare in the right eye after an upper respiratory illness.

Brazilian Angiology and Vascular Surgery Society Guidelines for the treatment of extracranial cerebrovascular disease.

Extracranial cerebrovascular disease has been the subject of intense research throughout the world, and is of paramount importance for vascular surgeons. This guideline, written by the Brazilian Society of Angiology and Vascular Surgery (SBACV), supersedes the 2015 guideline. Non-atherosclerotic carotid artery diseases were not included in this document.

Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.

Background And Purpose: Glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1-DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1-DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant.