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 …
role in nonmotor functions, including cognitive and social behaviors. This expanded …
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 …
dysregulation resulting from pathogenic variants in the TSC1 or TSC2 genes. Expression of …
[HTML][HTML] Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder
Acromegaly is a rare endocrine disorder characterized by the excessive production of
growth hormone (GH) in adulthood. Currently, it is understood that certain pituitary …
growth hormone (GH) in adulthood. Currently, it is understood that certain pituitary …
[HTML][HTML] Differences between Tuberous Sclerosis Complex Patients with and without Epilepsy: The Results of a Quantitative Diffusion Tensor Imaging Study
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease with a high
incidence of epilepsy and damaging effects on cognitive development. To understand the …
incidence of epilepsy and damaging effects on cognitive development. To understand the …
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… - Pediatric …, 2024 - pedneur.com
Background Tuberous sclerosis complex (TSC) is a multisystemic disorder caused by
inactivating variants in the mTOR pathway inhibitors genes TSC1 and TSC2. Individuals with …
inactivating variants in the mTOR pathway inhibitors genes TSC1 and TSC2. Individuals with …
Epilepsi akibat hemimegalensefali pada bayi berusia tiga bulan: Sebuah laporan kasus
IGIPP Dika, IPS Indrawangsa, MR Dewi - Medicina, 2024 - medicinaudayana.ejournals.ca
Background: The causes of epilepsy are not only limited to idiopathic but also symptomatic,
for example, hemimegalencephaly. Hemimegalencephaly is a rare congenital disorder …
for example, hemimegalencephaly. Hemimegalencephaly is a rare congenital disorder …