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Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.
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 PDFRare diseases: a challenge in paediatric dentistry.
Eur J Paediatr Dent
September 2024
Director of the Postgraduate School of Paediatric Dentistry, University of Pisa.
Article Synopsis
- - Rare diseases, though infrequent (happening in 100-500 per million), pose significant challenges in pediatric dentistry due to their complex needs and the required specialized care.
- - Conditions like X-linked hypophosphatemic rickets (XLH), hypophosphatasia (HPP), and osteogenesis imperfecta (OI) show how systemic health problems can directly affect oral health, necessitating a multidisciplinary approach for effective treatment.
- - XLH is particularly notable, caused by mutations in the PHEX gene, leading to issues such as poor enamel mineralization, dental abscesses, and unique dental manifestations, emphasizing the crucial role dentists play in early diagnosis and referrals to genetic specialists.
Tuberous sclerosis complex: A clinical diagnosis in Ethiopian patients.
Medicine (Baltimore)
February 2024
Department of Radiology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Article Synopsis
- - Tuberous sclerosis complex (TSC) is a rare genetic disorder causing nonmalignant growths in various organs, with delayed diagnosis often resulting from a lack of physician familiarity.
- - Two patients, a 27-year-old man with kidney issues and a 28-year-old woman with seizures, were diagnosed with TSC through established diagnostic criteria and exhibited various skin lesions.
- - Both patients were advised to receive ongoing care: the male was referred to a chronic illness clinic, while the female was scheduled for dermatological treatment for her facial lesions.
Oral manifestation in a pediatric patient with pentasomy x. A case report.
Rev Cient Odontol (Lima)
March 2023
Facultade de Odontologia da Universidade do Rio Grande do Sul. Porto Alegre, Río Grande del Sur. Universidade Federal do Rio Grande do Sul Facultade de Odontologia Universidade do Rio Grande do Sul Porto Alegre, Río Grande del Sur Brazil
Aim: To describe the oral finding, physical features and medical features with the genetic diagnosis of a Pentasomy X.
Case Report: A 6-year-old female patient was referred for oral evaluation presenting acute pain related to ulcers in the attached gingival and dorsum of tongue mucosa. Medical history revealed Pentasomy X associated with interatrial communication, convergent strabismus, recurrent seizures, dysautonomia, episodes of thrombosis and cognitive delay with limited oral communication skills.
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Hum Genome Var
January 2024
Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.
GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia.
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