Results 71 to 80 of about 24,840 (206)

Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Frontiers in Cell and Developmental Biology
BackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao   +10 more
doaj   +1 more source

Efficacy of neurosurgical interventions for epilepsy in polymicrogyria: A systematic review

Epilepsia Open, EarlyView.
Abstract Polymicrogyria (PMG) is a rare malformation of cortical development (MCD) characterized by abnormal neuronal architecture, often associated with epilepsy. Neurosurgical interventions have been explored, but their effectiveness remains a subject of ongoing research and debate.
Sergio Rinella, Manuela Lo Bianco, Agata Polizzi, Martino Ruggieri, Finbar J. K. O'Callaghan   +4 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

Stem Cell Research
The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng, Lu Liu, Qian Ren, Qun Wang, Wei Shan   +4 more
doaj   +1 more source

Clinical outcomes and learning curve of MRgLITT system for drug‐resistant epilepsy in China: A single‐center retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) is a minimally invasive technique that allows for real‐time magnetic resonance imaging (MRI) monitoring and precise ablation of epileptogenic lesions. This study reports our initial clinical experience with a domestically developed MRgLITT system in patients with ...
Sichang Chen, Yang Dai, Xiaotong Fan, Yihe Wang, Penghu Wei, Yongzhi Shan, Guoguang Zhao   +6 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Bilateral Renal Angiomyolipomas with Invasion of the Renal Vein: A Case Report

The Scientific World Journal, 2008
An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
C. Blick, N. Ravindranath, A. Muneer, A. Jones   +3 more
doaj   +1 more source

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, EarlyView.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Neurodevelopmental assessment at 24 months in infants with esophageal atresia: A prospective cohort study

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective To evaluate neurodevelopment at 24 months in infants surgically treated for esophageal atresia (EA), using the ages and stages questionnaire (ASQ), and identify perinatal and early‐life factors associated with developmental delay. Methods Infants with EA were prospectively enrolled in a structured multidisciplinary follow‐up program.
Julia Tagmouti, Manon Midavaine, Victor Sartorius, Nicolas Vinit, Elise Leroy‐Terquem, Sylvie Beaudoin, Elsa Kermorvant‐Duchemin, Véronique Rousseau, Alexandre Lapillonne   +8 more
wiley   +1 more source

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex [PDF]

Nephrology (Carlton)
ABSTRACT Tuberous sclerosis complex (TSC) is a multisystem condition associated with disease‐causing variants of either TSC1 or TSC2 genes. Significant kidney involvement in TSC is most often due to development of angiomyolipomas (AMLs) and occurs more frequently in people with TSC2 variants.
Donald J, Edmonstone C, Chan D, Chung C, Kennedy S.   +4 more
europepmc   +2 more sources