Contemporary scope of inborn errors of metabolism involving epilepsy or seizures
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Contemporary scope of inborn errors of metabolism involving epilepsy or seizures
Authors
Keywords
Metabolic epilepsy, Next-generation sequencing, Inherited metabolic disease, Diagnostics
Journal
METABOLIC BRAIN DISEASE
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-07-13
DOI
10.1007/s11011-018-0288-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Chronic inhibition of brain glycolysis initiates epileptogenesis
- (2017) Evgeniya Samokhina et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy
- (2016) Niklas Darin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
- (2016) Glen R. Monroe et al. GENETICS IN MEDICINE
- Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
- (2016) Katherine L. Helbig et al. GENETICS IN MEDICINE
- A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- (2016) Zornitza Stark et al. GENETICS IN MEDICINE
- Prevalence and etiology of epilepsy in a Norwegian county-A population based study
- (2015) Marte Syvertsen et al. EPILEPSIA
- Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
- (2015) Saadet Mercimek-Mahmutoglu et al. EPILEPSIA
- Review of Commercially Available Epilepsy Genetic Panels
- (2015) Chelsea Chambers et al. Journal of Genetic Counseling
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
- (2015) Stefan Kölker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Whole exome sequencing of suspected mitochondrial patients in clinical practice
- (2015) Saskia B. Wortmann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mitochondrial dysfunction and seizures: the neuronal energy crisis
- (2015) Gábor Zsurka et al. LANCET NEUROLOGY
- A roadmap for precision medicine in the epilepsies
- (2015) LANCET NEUROLOGY
- Brain Imaging and Genetic Risk in the Pediatric Population, Part 1
- (2015) Maria Gabriela Longo et al. NEUROIMAGING CLINICS OF NORTH AMERICA
- Inborn Errors of Metabolism: Combining Clinical and Radiologic Clues to Solve the Mystery
- (2014) Mohannad Ibrahim et al. AMERICAN JOURNAL OF ROENTGENOLOGY
- Describing the genetic architecture of epilepsy through heritability analysis
- (2014) Doug Speed et al. BRAIN
- Familial risk of epilepsy: a population-based study
- (2014) Anna L. Peljto et al. BRAIN
- Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
- (2014) Erika Della Mina et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Occasional seizures, epilepsy, and inborn errors of metabolism
- (2014) Olivier Dulac et al. LANCET NEUROLOGY
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
- (2014) S. E. Soden et al. Science Translational Medicine
- Do seizures and epileptic activity worsen epilepsy and deteriorate cognitive function?
- (2013) Giuliano Avanzini et al. EPILEPSIA
- Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
- (2013) Melanie A. Jones et al. MOLECULAR GENETICS AND METABOLISM
- Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010
- (2013) J. López-Pisón et al. NEUROLOGIA
- Mitochondrial Dysfunction in Epilepsy
- (2013) Divya S. Khurana et al. Seminars in Pediatric Neurology
- Inborn errors of metabolism causing epilepsy
- (2012) SHAMIMA RAHMAN et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders
- (2012) Johannes R. Lemke et al. EPILEPSIA
- Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies
- (2011) David A. Greenberg et al. EPILEPSIA
- Modern antiepileptic drug development has failed to deliver: Ways out of the current dilemma
- (2011) Wolfgang Löscher et al. EPILEPSIA
- A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies
- (2011) Mario Mastrangelo et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Metabolic and monogenic causes of seizures in neonates and young infants
- (2011) Johan L.K. Van Hove et al. MOLECULAR GENETICS AND METABOLISM
- Genetic evaluation and counseling for epilepsy
- (2010) Deb K. Pal et al. Nature Reviews Neurology
- 3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathy
- (2010) S. B. Wortmann et al. NEUROLOGY
- Key factors in the discovery and development of new antiepileptic drugs
- (2009) Meir Bialer et al. NATURE REVIEWS DRUG DISCOVERY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started