Literature DB >> 15743550

Seizures and metabolic disease.

Phillip L Pearl1, Heather D Bennett, Zarir Khademian.   

Abstract

Seizures represent an important clinical manifestation of inborn errors of metabolism. The presence of myoclonic seizures and very early onset are clues to a metabolic disorder. Specific correlations between age of seizure onset and electroencephalogram patterns with inborn errors of metabolism are discussed. The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate metabolic diagnostic and therapeutic strategies in the setting of certain epilepsies. Specific laboratory, imaging, and treatment considerations are included to present updated material in a field that continues to expand rapidly.

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Year:  2005        PMID: 15743550     DOI: 10.1007/s11910-005-0010-7

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  19 in total

1.  Neuronal migration disorder in Zellweger mice is secondary to glutamate receptor dysfunction.

Authors:  P Gressens; M Baes; P Leroux; A Lombet; P Van Veldhoven; A Janssen; J Vamecq; S Marret; P Evrard
Journal:  Ann Neurol       Date:  2000-09       Impact factor: 10.422

Review 2.  Defects of pyruvate metabolism and the Krebs cycle.

Authors:  Linda De Meirleir
Journal:  J Child Neurol       Date:  2002-12       Impact factor: 1.987

Review 3.  Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy.

Authors:  Ingrid Tein
Journal:  J Child Neurol       Date:  2002-12       Impact factor: 1.987

Review 4.  Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism.

Authors:  Douglas R Nordli; Darryl C De Vivo
Journal:  J Child Neurol       Date:  2002-12       Impact factor: 1.987

Review 5.  Mitochondrial disorders.

Authors:  Salvatore DiMauro; Antoni L Andreu; Darryl C De Vivo
Journal:  J Child Neurol       Date:  2002-12       Impact factor: 1.987

6.  Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

Authors:  Dong Wang; Juan M Pascual; Hong Yang; Kristin Engelstad; Sarah Jhung; Ruo Peng Sun; Darryl C De Vivo
Journal:  Ann Neurol       Date:  2005-01       Impact factor: 10.422

7.  Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

Authors:  P L Pearl; K M Gibson; M T Acosta; L G Vezina; W H Theodore; M A Rogawski; E J Novotny; A Gropman; J A Conry; G T Berry; M Tuchman
Journal:  Neurology       Date:  2003-05-13       Impact factor: 9.910

8.  Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency.

Authors:  Toshihiro Shinka; Masafumi Ohfu; Shinichi Hirose; Tomiko Kuhara
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2003-07-15       Impact factor: 3.205

9.  Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.

Authors:  T Ethofer; U Seeger; U Klose; M Erb; B Kardatzki; E Kraft; G B Landwehrmeyer; W Grodd; A Storch
Journal:  Neurology       Date:  2004-03-23       Impact factor: 9.910

10.  Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor.

Authors:  Rainer Breitling
Journal:  BMC Pediatr       Date:  2004-03-12       Impact factor: 2.125

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  4 in total

Review 1.  Can Old Animals Reveal New Targets? The Aging and Degenerating Brain as a New Precision Medicine Opportunity for Epilepsy.

Authors:  Aaron Del Pozo; Leanne Lehmann; Kevin M Knox; Melissa Barker-Haliski
Journal:  Front Neurol       Date:  2022-04-28       Impact factor: 4.086

Review 2.  Infantile seizures: infants are not just little children.

Authors:  David T Hsieh; Jennifer M Walker; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2008-03       Impact factor: 5.081

Review 3.  Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery.

Authors:  Rachel E Williams; Karen Mruk
Journal:  Int J Mol Sci       Date:  2022-08-03       Impact factor: 6.208

Review 4.  Metabolic Seizures.

Authors:  Mohammed Almannai; Rabah A Al Mahmoud; Mohammed Mekki; Ayman W El-Hattab
Journal:  Front Neurol       Date:  2021-07-06       Impact factor: 4.003

  4 in total

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