Contemporary scope of inborn errors of metabolism involving epilepsy or seizures

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