"Approximately 60% of patients with bottom of sulcus focal cortical dysplasia have either somatic (in sporadic cases) or germline (in familial cases) mutations in genes affecting the mTOR pathway (e.g. DEPDC5, NPRL3) 1,3. Thus, bottom of sulcus focal cortical dysplasia may be considered an mTORopathy in most instances 1,3."
"There is an important but unsurprising overlap between germline mutations causing bottom of sulcus dysplasia (e.g. DEPDC5, NPRL3) and those that cause autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (previously nocturnal frontal lobe epilepsy) 7."
"There is an important but unsurprising overlap between germline mutations causing bottom of sulcus dysplasia (e.g. DEPDC5, NPRL3) and those that cause autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (previously nocturnal frontal lobe epilepsy) 7."
"tumours (e.g. astrocytoma, oligodendroglioma, DNET, ganglioglioma, etc.)"