Results 191 to 200 of about 50,774 (290)

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 862-870, April 2026.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Decreased BOLD Signal Variability in Middle‐Aged and Older Adults on the Autism Spectrum

Autism Research, Volume 19, Issue 4, April 2026.
ABSTRACT Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder. Preliminary evidence suggests an increased risk for early‐onset cognitive and neurological decline in ASD. While brain development in children, adolescents, and young adults with ASD diverges from neurotypical (NT) peers, it remains unclear in older adults with ASD ...
Stephanie Pedrahita, Annika Linke, Michaela Cordova, Molly Wilkinson, Janice Hau, Gioia Toro, Kalekirstos Alemu, Jiwandeep Kohli, Ralph‐Axel Müller, Ruth Carper   +9 more
wiley   +1 more source

Motor Performance in Autistic Youth From Childhood Through Adolescence: Evidence for Both Sustained and Widening Group Differences

Autism Research, Volume 19, Issue 4, April 2026.
ABSTRACT Although motor‐skill differences in autistic individuals are well established, there is diverging evidence regarding what happens to motor skills in autistic children as they become adolescents. Using both cross‐sectional and longitudinal data, we examined fine and gross motor skills and grip strength of 187 autistic participants and 136 non ...
Allison R. Block, Emily C. Skaletski, Claire M. Sheedy, Ella A. Vanderpool, Brittany G. Travers   +4 more
wiley   +1 more source

Receptive–Expressive Language Phenotypes in Infants and Toddlers With Autism Features

Autism Research, Volume 19, Issue 4, April 2026.
ABSTRACT Children diagnosed with autism often present with an atypical discrepancy between their receptive and expressive language levels, or an atypical receptive–expressive language phenotype. Children with an atypical receptive–expressive phenotype present with a relative receptive language advantage (expressive level < receptive level) or a ...
Torrey Cohenour, Amanda Gulsrud, Connie Kasari   +2 more
wiley   +1 more source

The Mechanism Underlying the Abnormal Expression of α‐Synuclein in the Cortical Lesions of Patients With FCD Type IIb and TSC

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
The mTOR/GLT‐1 pathway abnormality induces α‐synucleinopathy, contributing to seizures in FCD lesions, which were rescued by treatment with the mTOR inhibitor Rapa or the GLT‐1 enhancer Cef. Intracerebroventricular α‐syn administration attenuated PTZ‐induced seizures in FCD models.
Li Zhang, Jian‐Ping Song, Jun Huang, Ping Liang, Hui Yang, Chun‐Qing Zhang, Kai‐Feng Shen   +6 more
wiley   +1 more source

Tuberous sclerosis presents with self-injurious behavior as an adverse event of Vigabatrin. [PDF]

Indian J Psychiatry
Meghana V, Sakhardande KA, Thomas TL.
europepmc   +1 more source

A Review of Vagus Nerve Stimulation for Disease: Comprehensive Theory and Evidence for Mechanisms of Action

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
Vagus nerve stimulation (VNS) effects span central and peripheral organ systems through diverse mechanistic pathways. This comprehensive review provides a unified synthesis of these mechanisms across neurological, cardiovascular, immunological, metabolic, and gastrointestinal domains, filling a critical gap and serving as a foundational resource for ...
Yifeng Bu, Alex Liang, Benjamin U. Hoffman, Dawn M. Schiehser, Oliver Case, Alan Simmons, Ruth Klaming, Andres Gottfried‐Blackmore, Ravinder K. Mittal, Christopher Puleo, Hubert Lim, Imanuel Lerman   +11 more
wiley   +1 more source

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report. [PDF]

Front Genet
Dai F, Duan Y, Di BA, Feng Q, Cui J, Lv T.   +5 more
europepmc   +1 more source

Clinical Study to Evaluate Drug Interactions of Cannabidiol with Citalopram and Morphine in Healthy Adults

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 1095-1104, April 2026.
Cannabidiol (CBD) is one of the most abundant bioactive cannabinoids. Research has demonstrated CBD’s ability to inhibit metabolic enzymes like cytochrome P450 (CYP) and UDP‐glucuronosyltransferase (UGT), potentially leading to drug interactions. However, clinical knowledge gaps remain, particularly with regard to drugs that are more commonly taken by ...
Pablo Salcedo, Donna A. Volpe, Anik Chaturbedi, Aanchal Shah, Ashok Krishna, Paula L Hyland, Giri Vegesna, Cheng‐Hui Hsiao, Ryan De Palma, Melanie Fein, Rodney Rouse, Jeffry Florian   +11 more
wiley   +1 more source

High prevalence of orocutaneous features in Yemeni patients with tuberous sclerosis complex. [PDF]

JAAD Int
Alshami MA, Al-Shami AM, Mohana MJ, Mohammed Al-Sayaghi AA, Alshami HM.   +4 more
europepmc   +1 more source