A patient with tuberous sclerosis diagnosed at the age of 5 years developed an intractable seizure disorder characterized by complex partial seizures numbering 10-20/day. Interictal electroencephalograms (EEG) showed a right frontal epileptogenic focus. A computerized tomography scan demonstrated calcification in the right frontal region at two sites, periventricular calcification and multiple low density lesions. Neuropsychological assessment showed a verbal intelligence quotient (IQ) of 69 and a performance IQ of 88. Telemetry and video monitoring recorded 10 seizures during which the EEG showed flattening of ongoing sharp wave activity in the right frontal region. Electrocorticography further identified and localized epileptogenic tissue in the right frontal cortex and surgical removal of involved tissue and the adjacent two tubers was carried out. Twelve months after surgery the patient has had only two brief seizures.
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http://dx.doi.org/10.1111/j.1440-1754.1989.tb01465.x | DOI Listing |
Mol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFJ Biol Chem
December 2024
Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa, Nagoya, Japan. Electronic address:
The mechanistic target of rapamycin complex 1 (mTORC1) functions as a master regulator of cell growth and proliferation. We previously demonstrated that intracellular calcium ion (Ca) concentration modulates the mTORC1 pathway via binding of the Ca sensor protein calmodulin (CaM) to tuberous sclerosis complex 2 (TSC2), a critical negative regulator of mTORC1. However, the precise molecular mechanism by which Ca/CaM modulates mTORC1 activity remains unclear.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
December 2024
Maria Fareri Children's Hospital, Westchester Medical Center, Valhalla, NY, USA.
A 2-week-old, 2.6-kg neonate without tuberous sclerosis presented with a severe right ventricular outflow tract obstruction secondary to a large mass. Transthoracic echocardiography revealed a maximum right ventricular outflow tract gradient of at least 95 mmHg.
View Article and Find Full Text PDFbioRxiv
December 2024
Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, University of Cincinnati; Cincinnati, OH 45267, USA.
Lymphangioleiomyomatosis (LAM) is a cystic lung disease that primarily affects women. LAM is caused by the invasion of metastatic smooth muscle-like cells into the lung parenchyma, leading to abnormal cell proliferation, lung remodeling and progressive respiratory failure. LAM cells have TSC gene mutations, which occur sporadically or in people with Tuberous Sclerosis Complex.
View Article and Find Full Text PDFAm J Intellect Dev Disabil
January 2025
Carly Hyde, University of California, Los Angeles; Logan Shurtz, University of Texas Southwestern Medical Center; Nicole McDonald, University of California, Los Angeles; Maria Pizzano, Loyola Marymount University; Charles A. Nelson, Boston Children's Hospital and Harvard Medical School; Elizabeth A. Thiele, Massachusetts General Hospital; Connie Kasari, University of California, Los Angeles; and Shafali Jeste, Children's Hospital Los Angeles.
Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study.
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