Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

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

Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …

Glycosylation, the addition of glycans or carbohydrates to proteins, lipids, or other glycans, is
a complex post-translational modification that plays a crucial role in cellular function. It is …

Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …

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 …

Importance Mesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy
subtype and is often refractory to antiseizure medications. While most patients with MTLE do …

Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical
development have emerged as important causes of focal epilepsies, particularly those due …