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Expanded genetic insight and clinical experience of DNMT1-complex disorder.
Neurol Genet
August 2020
Department of Neurology (H.B., J.G.-R., E.K.S.L., E.P.F., S.N., D.T.J., M.C.P., S.K., C.J.K.), Mayo Clinic, Rochester, MN; Department of Neurology (H.B.), Beijing Friendship Hospital, China; Division of Neuropsychiatry (K.H.), Harima Sanatorium, Hyogo, Japan; Department of Neurology (M.W.), Ehime Prefectural Central Hospital, Matsuyama, Japan; Harvard Medical School (C.Y., K.M.), Boston Children's Hospital, MA; Center for Molecular Medicine and Genetics (S.S.), School of Medicine, Wayne State University, Detroit, MI; Department of Psychology (M.M.M.), Mayo Clinic, Rochester, MN; Atrium Health (I.S.H.), Neurosciences Institute, Concord, NC; Deapartment of Head and Neck Surgery (Y.R.), Oregon Health and Science University, Portland; Department of Laboratory Medicine and Pathology (Z.N., C.J.K.), Mayo Clinic, Rochester, MN; and Department of Neurology and Translational Neuroscience Initiative (J.L.), School of Medicine. Wayne State University, Detroit, MI.
Objective: To report novel causal mutations, expanded clinical phenotypes, and clinical management of DNA methyltransferase 1 (DNMT1)-complex disorder.
Methods: Neurophysiologic testing, imaging, and genetic findings were summarized in clinical context for 5 cases with DNMT1-complex disorder.
Results: We identified 2 novel DNMT1 mutations (p.
Childhood-onset hemiatrophy caused by unilateral morphea.
Clin Dysmorphol
October 2009
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Perfusion SPECT findings in a suspected case of Rasmussen encephalitis.
J Neuroimaging
October 2009
Fédération de Médecine Nucléaire CHU-CAL, Nice, France.
We report the case of a 35-year-old who was referred for brain perfusion single photon emission computed tomography (SPECT) for pharmacoresistant epilepsy. Her medical history included brain surgery for an inflammatory lesion of unknown origin at age 23 before partial epilepsy occurred. The seizures became refractory to standard antiepileptic drugs and she developed epileptic negative myoclonus of the right upper limb, nocturnal motor seizures, and progressive intellectual impairment.
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