Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous
research and consensus agreement to improve disease definition and classification. An …

Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic
pathologies with or without tumour activity is essential for improving treatment of drug …

The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …

Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by
epileptogenic lesions, including malformations of cortical development (MCD) and low …

Focal malformations of cortical development including focal cortical dysplasia,
hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental …

Background and Objectives The SLC35A2 gene, located at chromosome Xp11. 23, encodes
for a uridine diphosphate–galactose transporter. We describe clinical, genetic …

Introduction Epilepsy is one of the most common and serious brain syndromes and has
adverse consequences on a patient's neurobiological, cognitive, psychological, and social …

Focal cortical dysplasias (FCDs) are malformations of cortical development and one of the
most common pathologies causing pharmacoresistant focal epilepsy. Resective …