[HTML][HTML] Subependymal Giant Cell Astrocytoma: The Molecular Landscape and Treatment Advances

E Pucko, D Sulejczak, RP Ostrowski - Cancers, 2024 - mdpi.com
Simple Summary Subependymal giant cell astrocytoma is a slow-growing brain tumor
affecting children and young adults. Despite the characteristic molecular and clinical …

Cerebellar roles in motor and social functions and implications for ASD

AM Sivalingam, A Pandian - The Cerebellum, 2024 - Springer
The cerebellum, traditionally linked to voluntary motor coordination, is now recognized for its
role in nonmotor functions, including cognitive and social behaviors. This expanded …

Autism spectrum disorder and various mechanisms behind it

P Rajabi, AS Noori, J Sargolzaei - Pharmacology Biochemistry and …, 2024 - Elsevier
Abstract Autism Spectrum Disorder (ASD) is a complex and heterogeneous
neurodevelopmental condition characterized by a range of social, communicative, and …

[HTML][HTML] Unlocking the genetic secrets of acromegaly: Exploring the role of genetics in a rare disorder

I Balinisteanu, L Caba, A Florea, R Popescu… - Current Issues in …, 2024 - mdpi.com
Acromegaly is a rare endocrine disorder characterized by the excessive production of
growth hormone (GH) in adulthood. Currently, it is understood that certain pituitary …

Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes

E Lauricella, N Chaoul, G D'Angelo, A Giglio… - … Treatment Options in …, 2025 - Springer
The vast majority of neuroendocrine'neoplasms (NENs) are sporadic, although recent
evidence has indicated that a subset of these cancers may also originate as a result of …

Behavioral analyses in rodent models of tuberous sclerosis complex

VR Santos, LG Jerow, CL LaSarge - Epilepsy & Behavior, 2025 - Elsevier
Tuberous sclerosis complex (TSC) is typically associated with epilepsy, but patients also
present with a myriad of comorbid neuropsychiatric disorders. TSC is caused by mutations in …

Tuberous Sclerosis Complex: Diagnostic Features, Surveillance, and Therapeutic Strategies

KH Arredondo, K Jülich, ES Roach - Seminars in Pediatric Neurology, 2024 - Elsevier
Tuberous sclerosis complex (TSC) is a rare neurocutaneous disorder of mTOR pathway
dysregulation resulting from pathogenic variants in the TSC1 or TSC2 genes. Expression of …

[HTML][HTML] Differences between Tuberous Sclerosis Complex Patients with and without Epilepsy: The Results of a Quantitative Diffusion Tensor Imaging Study

AB Marcinkowska, S Jóźwiak, A Sabisz, A Tarasewicz… - Biomedicines, 2024 - mdpi.com
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease with a high
incidence of epilepsy and damaging effects on cognitive development. To understand the …

[PDF][PDF] Orofacial manifestations and dental treatment considerations in patients with tuberous sclerosis complex: a case report

YC Chen, CL Tsai - J Clin Pediatr Dent, 2025 - oss.jocpd.com
Background: Tuberous sclerosis complex (TSC1/TSC2, Online Mendelian Inheritance in
Man (OMIM)# 191100/613254) is a rare autosomal dominant genetic disorder characterized …

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members

A Man, M Di Scipio, B Dale, PT Marques, CS Birbeck… - Pediatric Neurology, 2024 - Elsevier
Background Tuberous sclerosis complex (TSC) is a multisystemic disorder caused by
inactivating variants in the mTOR pathway inhibitor genes TSC1 and TSC2. Individuals with …