Intellectual disability and autistic behavior and their modifying factors in children with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is classified among developmental epileptic encephalopathies, where epilepsy is often associated with comorbidities such as intellectual disability and autistic behavior. The recently introduced term TAND (TSC-associated neuropsychiatric disorders) encompasses the wide range of cognitive, behavioral, psychiatric, and psychosocial manifestations seen in TSC. The severity of these comorbidities is influenced by several factors, including the TSC1/TSC2 genotype, the age of epilepsy onset, the number, volume and type of cortical tubers, the interval between epilepsy onset and treatment initiation, and the presence of infantile spasms, hypsarrhythmia, or drug-resistant epilepsy.

Titanium Oxide Formation in TiCoCrFeMn High-Entropy Alloys.

High-entropy materials, characterized by complex chemical compositions, are difficult to identify and describe structurally. These problems are encountered at the composition design stage when choosing an effective method for predicting the final phase structure of the alloy, which affects its functional properties. In this work, the effects of introducing oxide precipitates into the matrix of a high-entropy TiCoCrFeMn alloy to strengthen ceramic particles were studied.

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants.

Methods: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB.

Methodological insights from the EPISTOP trial to designing clinical trials in rare diseases-A secondary analysis of a randomized clinical trial.

Background: In clinical research, the most appropriate way to assess the effect of an intervention is to conduct a randomized controlled trial (RCT). In the field of rare diseases, conducting an RCT is challenging, resulting in a low rate of clinical trials, with a high frequency of early termination and unpublished trials. The aim of the EPISTOP trial was to compare outcomes in infants with tuberous sclerosis (TSC) who received vigabatrin preventively before the seizures onset with those who received it conventionally after.

The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.

Recent advances in genetic testing technologies have revolutionised the identification of genetic abnormalities in early onset developmental and epileptic encephalopathies (DEEs). In this Review, we provide an update on the expanding landscape of genetic factors contributing to DEEs, encompassing over 800 reported genes. We focus on the cellular and molecular mechanisms driving epileptogenesis, with an emphasis on emerging therapeutic strategies and effective treatment options.