Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by reduction or absence of neurofibromin due to mutations in the NF1 gene that result in multiple behavioral defects among other aberrant phenotypes. To directly assess the consequences of Nf1 deficiency on evoked neuronal activity, potentially underlying neuroplasticity defects, we utilized null mutations, point mutations, and RNA interference to manipulate Nf1 levels in Drosophila melanogaster. Our study focused on assessing the functional alterations in the giant fiber system, a well-established electrophysiological model to study

Neurofibromatosis type 1 (NF1) is one of the most prevalent rare genetic diseases, confronting patients with numerous medical (neurological, cutaneous, osseous) and neuropsychological symptoms. To identify risk factors and allow for targeted neuropsychological intervention, potential associations between the heterogenous somatic and cognitive phenotype have been proposed.The present study harnesses the benefits of machine learning analysis to investigate potential non-/linear associations between the medical and neuropsychological profiles of n=236 pediatric NF1 patients. A total of 14 models

Neurofibromatosis type 1 (NF1) is a monogenic but highly multisymptomatic disorder that affects 1:2500 individuals and results from mutations in the Nf1 tumor suppressor gene. Nf1 encodes Neurofibromin (Nf1), a large multifunctional protein, preferentially expressed in the central and peripheral nervous system, crucial for regulating multiple signaling pathways. Although typically considered a tumor predisposition syndrome, NF1 is also associated with broad cognitive and behavioral presentations, including impaired learning, attention deficit hyperactivity disorder, autism spectrum disorder, s