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

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 …

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

Epilepsy is a neurological disorder that poses a major threat to public health.
Hyperactivation of mTOR complex 1 (mTORC1) is believed to lead to abnormal network …

The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Focal malformations of cortical development (MCD) are linked to somatic brain mutations
occurring during neurodevelopment. Mild malformation of cortical development with …

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 …

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

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