Advances in large-scale single-unit human neurophysiology, single-cell RNA sequencing,
spatial transcriptomics and long-term ex vivo tissue culture of surgically resected human …

The cerebral cortex—the brain's covering and largest region—has increased in size and
complexity in humans and supports higher cognitive functions such as language and …

Brain somatic mutations in various components of the mTOR complex 1 (mTORC1) pathway
have emerged as major causes of focal malformations of cortical development and …

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 …

Mosaic variants (MVs) reflect mutagenic processes during embryonic development and
environmental exposure, accumulate with aging and underlie diseases such as cancer and …

Brain-restricted somatic variants in genes of the mechanistic target of rapamycin signalling
pathway cause focal epilepsies associated with focal cortical dysplasia type II. We …

The cerebral cortex is the brain's outermost layer. It is responsible for processing motor and
sensory information that support high-level cognitive abilities and shape personality. Its …

The development of seizures in epilepsy syndromes associated with malformations of
cortical development (MCDs) has traditionally been attributed to intrinsic cortical alterations …

Focal cortical dysplasia, hemimegalencephaly and cortical tubers are paediatric
epileptogenic malformations of cortical development (MCDs) frequently pharmacoresistant …