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

Somatic mosaicism in focal epilepsies : Current Opinion in Neurology Somatic mosaicism in
focal epilepsies : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …

Bottom-of-sulcus dysplasia (BOSD) is increasingly recognized as a cause of drug-resistant,
surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe …

Objective Although genetic causes of drug-resistant focal epilepsy and selected focal
malformations of cortical development (MCD) have been described, a limited number of …

Somatic mosaicism in a fraction of brain cells causes neurodevelopmental disorders,
including childhood intractable epilepsy. However, the threshold for somatic mosaicism …

Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia Page 1
Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia This scientific …

We studied the distribution of germline and somatic variants in epilepsy surgery patients with
(suspected) malformations of cortical development (MCD) who underwent surgery between …

Objective This study investigates the prevalence of pathogenic variants in the mechanistic
target of rapamycin (mTOR) pathway in surgical specimens of malformations of cortical …

Lesional epilepsy is a common and severe disease commonly associated with
malformations of cortical development, including focal cortical dysplasia and …

Somatic mosaic variants contribute to focal epilepsy, but genetic analysis has been limited to
patients with drug-resistant epilepsy (DRE) who undergo surgical resection, as the variants …