MARC Record from harvard_bibliographic_metadata

LEADER: 04621nam a22004218a 4500
001 013595729-X
005 20130308190332.0
008 120607s2013 nyu b 001 0 eng
010 $a 2012023320
020 $a9781936287253
020 $a9781617050565 (e-book)
035 0 $aocn795553730
035 0 $aocn819072168
040 $aDNLM/DLC$cDLC
042 $apcc
050 00 $aRC372$b.I44 2013
060 10 $aWL 385
082 00 $a616.85/3$223
245 00 $aInherited metabolic epilepsies /$c[edited by] Phillip L. Pearl.
260 $aNew York :$bDemos Medical Pub.,$cc2013.
300 $axiv, 356 p. :$bill. ;$c27 cm.
504 $aIncludes bibliographical references and index.
505 0 $aMachine generated contents note: pt. I GENERAL PRINCIPLES -- 1.Inherited Metabolic Epilepsies: The Top 10 Diagnoses You Cannot Afford to Miss / Phillip L. Pearl -- 2.Neuroimaging in the Metabolic Epilepsies / Zarir P. Khademian -- 3.Advances in MR Spectroscopy for Inherited Epilepsies / Andrea L. Gropman -- 4.Electroencephalography in the Metabolic Epilepsies / Phillip L. Pearl -- 5.Genetic Counseling in Metabolic Epilepsies / Jodie M. Vento -- 6.Ketogenic Diet in Metabolic Epilepsies / Eric H. Kossoff -- pt. II SMALL MOLECULE USEASES -- 7.Amino and Qrganic Acid Disorders and Epilepsy / Kimberly A. Chapman -- 8.Fatty Acid Oxidation Disorders and Epilepsy / Dimitar K. Gavrilov -- 9.Urea Cycle Disorders and Epilepsy / Marshall L. Summar -- 10.Mitochondrial Diseases and Epilepsy / Andrea L. Gropman -- 11.Pyridoxine-Dependent Epilepsy and Related Conditions / Sidney M. Gospe, Jr. -- 12.Tetrahydrobiopterin Deficiencies and Epilepsy / Thomas Opladen --
505 0 $aContents note continued: 13.Disorders of GABA Metabolism and Epilepsy / K. Michael Gibson -- 14.Glucose Transporter Type I Deficiency Syndrome and Epilepsy / Darryl C. De Vivo -- 15.DEND Syndrome: Developmental Delay, Epilepsy, and Neonatal Diabetes, A Potassium Channelopathy / Frances Ashcroft -- 16.Hyperammonemia/Hyperinsulinism and Epilepsy / Andrea Kelly -- 17.Glycine Encephalopathy and Epilepsy / Julia B. Hennermann -- 18.Serine Synthesis Defects and Epilepsy / Tom J. de Koning -- 19.Lesch-Nyhan Disease and Epilepsy / Hyder A. Jinnah -- 20.Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy / Barbara Plecko-Startinig -- 21.Creatine Disorders and Epilepsy / Ton de Grauw -- 22.Cerebral Folate Deficiency and Epilepsy / Fernando Scaglia -- 23.Homocysteinemias and Epilepsy / William M. McClintock -- pt. III LARGE MOLECULE DISEASES -- 24.Congenital Disorders of Glycosylation and Epilepsy / Susan Sparks --
505 0 $aContents note continued: 25.Lysosomal Storage Diseases and Epilepsy / Grisel Lopez -- 26.Peroxisomal Diseases and Epilepsy / Gerald V. Raymond -- 27.Leukodystrophies and Epilepsy / Adeline Vanderver -- pt. IV CONCLUSIONS -- 28.Clinical Approach to Inherited Metabolic Epilepsies / Phillip L. Pearl.
520 $aThe explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. The book begins with general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, new technologies, and the ketogenic diet. The next two sections are devoted to the cohort of specific small molecule and large molecule disorders that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction while considering an inherited metabolic disorder as the explanation for a patient with epilepsy.
650 22 $aEpilepsy$xtherapy.
650 22 $aEpilepsy$xdiagnosis.
650 22 $aBrain Diseases, Metabolic, Inborn$xtherapy.
650 22 $aBrain Diseases, Metabolic, Inborn$xdiagnosis.
650 12 $aEpilepsy$xetiology.
650 12 $aBrain Diseases, Metabolic, Inborn$xcomplications.
650 0 $aEpilepsy.
650 0 $aEpilepsy$xGenetic aspects.
650 0 $aMetabolism, Inborn errors of.
700 1 $aPearl, Phillip L.
988 $a20130115
906 $0OCLC