Abstract The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting
expert and multidisciplinary care in all life stages. In the present paper we propose …

Gangliogliomas (GGs) are low-grade brain tumours that cause intractable focal epilepsy in
children and adults. In GG, as in epileptogenic focal malformations (ie, tuberous sclerosis …

Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders
(TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic …

Objective Tuberous sclerosis complex (TSC) is a rare disease with a high risk of epilepsy
and cognitive impairment in children. Ketogenic diet (KD) therapy has been consistently …

Two thirds of pediatric gliomas are classified as low-grade (LGG), while in adults only
around 20% of gliomas are low-grade. However, these tumors do not only differ in their …

Background Genetic testing in CKD has recently been shown to have diagnostic utility with
many predicted implications for clinical management, but its effect on management has not …

Making a specific diagnosis in neurodevelopmental disorders is traditionally based on
recognizing clinical features of a distinct syndrome, which guides testing of its possible …

The increased use of nextgeneration sequencing has expanded our understanding of the
involvement and prevalence of mosaicism in genetic disorders. We describe a total of …

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder. Most patients have
germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 …

Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous syndrome.
It is manifested mainly in cutaneous lesions, epilepsy and the emergence of hamartomas in …