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CLN6-related continuum phenotype caused by aberrant splicing.
Epilepsia Open
December 2024
Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies.
View Article and Find Full Text PDFDifferent germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.
PLoS Genet
December 2024
Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients have a >1000-fold increased risk for sunlight-induced skin cancers. Many Japanese XP-A patients have severe neurological symptoms due to a founder variant in intron 3 of the XPA gene.
View Article and Find Full Text PDFAdult Phenotype of -Associated Disorders.
Neurol Genet
December 2024
From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., I.C., A.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Canada; Epilepsy Unit (A.A.-S.), Vithas Clinical Neuroscience Institute, Vithas Madrid University Hospitals; Faculty of Experimental Sciences (A.A.-S.), Francisco de Vitoria University, Madrid, Spain; Department of Drug Design and Pharmacology (A.B.), University of Copenhagen; Department for Genetics and Personalized Medicine (A.B.), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A.B.), University of Southern Denmark, Odense; NYU Langone Epilepsy Center (O.D., F.Q., A.A.); Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN; Division of Neurology (A.F., D.M.A.), Department of Medicine, University of Toronto; Krembil Brain Institute (A.F., D.M.A.); Clinical Genetics Research Program (A.S.B.), Centre for Addiction and Mental Health; The Dalglish Family 22q Clinic (A.S.B.), Toronto General Hospital, University Health Network; Department of Psychiatry (A.S.B.), University of Toronto, Ontario; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network and Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.), Toronto, Ontario, Canada.
Background And Objectives: Pathogenic variants are associated with neurodevelopmental disorders and developmental and epileptic encephalopathy. While pediatric phenotypes have been readily explored, adult phenotypes are not well understood. We aimed to investigate the phenotypic spectrum of adult patients with variants.
View Article and Find Full Text PDFFormoterol dynamically alters endocannabinoid tone in the periaqueductal gray inducing headache.
J Headache Pain
November 2024
Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States.
Background: Headache is a pain disorder present in populations world-wide with a higher incidence in females. Specifically, the incidences of medication overuse headache (MOH) have increased worldwide. Comorbidities of MOH include photosensitivity, anxiety, "brain fog", and decreased physical activity.
View Article and Find Full Text PDFLong-term Remission of Severe and Refractory Chronic Actinic Dermatosis with Dupilumab: A Case Report with Review of the Literature.
Acta Derm Venereol
August 2024
Reims Champagne-Ardenne University, Dermatology department, Reims University Hospital, IRMAIC EA7509, Reims, France.
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