Results 141 to 150 of about 159,720 (266)

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort

Epilepsia, EarlyView.
Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen, Abigail K. Runicles, Holan Liang, Emma Woodhouse, Lisa Underwood, Elizabeth Shephard, Edward D. Barker, Fintan Sheerin, Juul W. Steenbruggen, Tuberous Sclerosis 2000 Study Group, John R. W. Yates, Charlotte Tye, Patrick F. Bolton   +12 more
wiley   +1 more source

Rapamycin Prevents Sulfate-Reducing Bacteria-Induced Effects on Snail and GSK-3 and Impaired Intestinal Barrier. [PDF]

Microorganisms
Singh SB, Braun CA, Carroll-Portillo A, Lin HC.   +3 more
europepmc   +1 more source

Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo, Lirong Han, Nicholas R. Rensing, Laura A. Jansen, Michael Wong   +4 more
wiley   +1 more source

Hi-C calibration by chemically induced chromosomal interactions. [PDF]

EMBO Rep
Li Y, Fischer CWA, Zou F, Du M, Bai L.
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Interplay between cohesin and TORC1 links chromosome segregation and gene expression to environmental changes. [PDF]

Elife
Besson D, Vaur S, Vazquez S, Tournier S, Gachet Y, Birot A, Claverol S, Marston AL, Damdimopoulos A, Ekwall K, Javerzat JP.   +10 more
europepmc   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Ex vivo effects of low dose delayed release rapamycin on agonist-induced platelet aggregation, activation and procoagulant platelet phenotypes in domestic cats. [PDF]

Sci Rep
Shaverdian M, Nguyen N, Fitzgerald S, Grubb L, Stern JA, Li RHL.   +5 more
europepmc   +1 more source

Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis

Epilepsia Open, EarlyView.
Abstract Objective Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early‐onset drug‐resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo‐EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects
Julie Uchitel, Olubunmi Fariyike, Samantha Steeman, Sarah Rockwood, Lily H. Kim, John Choi, Astrid C. Hengartner, Aiden H. Fel, Prathyusha Teeyagura, Gerald Grant, Vivek Buch, Kelly B. Mahaney, Laura M. Prolo, Ann Hyslop Segeren, H. Westley Phillips   +14 more
wiley   +1 more source

The dynamic pool of Rec8-cohesin is crucial for meiotic recombination and transcription regulation in the yeast Saccharomyces cerevisiae. [PDF]

J Biol Chem
Paliwal S, Dey P, Kumari A, Sadasivam K, Joshi S, Raghuvanshi R, Goyal R, Sanyal K, Nishant KT, Shinohara A, Mehta G.   +10 more
europepmc   +1 more source