Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Journal of Inherited Metabolic Disease
Stephen G KalerJacquelyn C Greenfield

Abstract

Epilepsy is a major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations in ATP7A, which produces a copper-transporting ATPase. Three prior surveys indicated clinical seizures and electroencephalographic (EEG) abnormalities in a combined 27 of 29 (93%) symptomatic Menkes disease patients diagnosed at 2 months of age or older. To assess the influence of earlier, presymptomatic diagnosis and treatment on seizure semiology and brain electrical activity, we evaluated 71 EEGs in 24 Menkes disease patients who were diagnosed and treated with copper injections in early infancy (≤6 weeks of age), and whose ATP7A mutations we determined. Clinical seizures were observed in only 12.5% (3/24) of these patients, although 46% (11/24) had at least one abnormal EEG tracing, including 50% of patients with large deletions in ATP7A, 50% of those with small deletions, 60% of those with nonsense mutations, and 57% of those with canonical splice junction mutations. In contrast, five patients with mutations shown to retain partial function, either via some correct RNA splicing or residual copper transport capacity, had neither clinical seizures nor EEG abnormalities. Our findings suggest that early...Continue Reading

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Citations

Sep 1, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Anthony DonsanteStephen G Kaler
Dec 3, 2011·Clinical Dysmorphology·Julia D HicksStephen G Kaler
Oct 5, 2014·Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)·Stephen G Kaler
Aug 28, 2012·Brain & Development·Parayil Sankaran BinduRose Dawn Bharath
Sep 20, 2011·Brain & Development·Asuri N PrasadChitra Prasad
Mar 17, 2015·Pediatrics and Neonatology·Yi-Jie LinShuan-Pei Lin
Jan 7, 2016·Frontiers in Molecular Neuroscience·Małgorzata LenartowiczLisbeth Birk Møller
Dec 12, 2012·Annals of Neurology·Anthony DonsanteStephen G Kaler
Apr 17, 2014·Annals of the New York Academy of Sciences·Stephen G Kaler
Nov 28, 2014·American Journal of Medical Genetics. Part a·Patroula SmpokouUta Lichter-Konecki
Dec 17, 2014·Case Reports in Neurological Medicine·Tamer RizkSalah Al-Mubarak
Aug 16, 2011·Molecular Genetics and Metabolism·Johan L K Van Hove, Naomi J Lohr
Jun 15, 2012·Molecular Genetics and Metabolism·Marie Reine HaddadStephen G Kaler
Jan 29, 2014·Biochemical and Biophysical Research Communications·Ji-Hoon SuhYong-Mahn Han
Sep 15, 2014·Epilepsy Research·Alberto VerrottiLucio Giordano
Jun 3, 2014·Brain & Development·Jin Sook LeeJong-Hee Chae
Jul 20, 2014·Journal of Child Neurology·Alberto VerrottiGiangennaro Coppola
Jan 23, 2018·Translational Science of Rare Diseases·Carlos R Ferreira, William A Gahl
Jan 12, 2011·Nature Reviews. Neurology·Stephen G Kaler
Apr 27, 2013·Journal of Thrombosis and Haemostasis : JTH·Y GengD Gailani
Mar 1, 2014·Expert Review of Endocrinology & Metabolism·Barry E Rosenbloom, Neal J Weinreb
Apr 25, 2020·Expert Opinion on Drug Discovery·Naoyuki OtaniNaohiko Anzai
Jun 14, 2012·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Aneal KhanPramod K Mistry
Jan 25, 2011·Journal of Clinical Pathology·P Cook, V Walker
May 16, 2015·Journal of Thrombosis and Haemostasis : JTH·D GailaniA Gruber
Apr 30, 2017·Metabolic Brain Disease·Paola de GemmisUros Hladnik
Oct 1, 2020·Computational and Structural Biotechnology Journal·Aditi MhaskeB K Binukumar
Aug 15, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·May T MaungTeresita Padilla-Benavides

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