Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

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

CADmutations and uridine-responsive epileptic encephalopathy

(2016) Johannes Koch et al.   BRAIN

Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes

(2016) Jaina Patel et al.   INDIAN JOURNAL OF PEDIATRICS

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Current Treatment and Management of Pyridoxine-Dependent Epilepsy

(2015) Clara D. M. van Karnebeek et al.   Current Treatment Options in Neurology

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

(2015) Sébastien Lebon et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

(2015) Fanny Mochel et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

(2015) Bernd C Schwahn et al.   LANCET

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

(2014) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early Onset Epilepsy and Inherited Metabolic Disorders: Diagnosis and Management

(2014) Asuri N. Prasad et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Genetic Testing of Epileptic Encephalopathies of Infancy: An Approach

(2014) Suvasini Sharma et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet

(2014) Saadet Mercimek-Mahmutoglu et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Epilepsy in Children With Menkes Disease

(2014) Alberto Verrotti et al.   JOURNAL OF CHILD NEUROLOGY

Adenylosuccinate lyase deficiency

(2014) Agnieszka Jurecka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature

(2014) Stefan Wolking et al.   JOURNAL OF NEUROLOGY

Occasional seizures, epilepsy, and inborn errors of metabolism

(2014) Olivier Dulac et al.   LANCET NEUROLOGY

Pyridoxine responsiveness in novel mutations of the PNPO gene

(2014) B. Plecko et al.   NEUROLOGY

Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders

(2014) Clara van Karnebeek et al.   SEMINARS IN NEUROLOGY

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

(2013) Sietske H. Kevelam et al.   BRAIN

An update on serine deficiency disorders

(2013) S. N. van der Crabben et al.   JOURNAL OF INHERITED METABOLIC DISEASE

GLUT1 deficiency syndrome 2013: Current state of the art

(2013) Valentina De Giorgis et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Metabolic epilepsy: An update

(2012) Laura Papetti et al.   BRAIN & DEVELOPMENT

Long-term outcome in pyridoxine-dependent epilepsy

(2012) LEVINUS A BOK et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Inborn errors of metabolism causing epilepsy

(2012) SHAMIMA RAHMAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Inborn errors of creatine metabolism and epilepsy

(2012) Vincenzo Leuzzi et al.   EPILEPSIA

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

(2012) Barry Wolf   GENETICS IN MEDICINE

Imaging in Neonatal Maple Syrup Urine Disease

(2012) Puneet Jain et al.   INDIAN JOURNAL OF PEDIATRICS

Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency

(2012) Nicholas V. Stence et al.   PEDIATRIC RADIOLOGY

Neuroimaging of inherited metabolic disorders producing seizures

(2011) Robert A. Zimmerman   BRAIN & DEVELOPMENT

Peroxisomal disorders with infantile seizures

(2011) Jao-Shwann Liang et al.   BRAIN & DEVELOPMENT

Menkes disease and infantile epilepsy

(2011) Asuri N. Prasad et al.   BRAIN & DEVELOPMENT

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature

(2011) Agnieszka Jurecka et al.   EUROPEAN JOURNAL OF PEDIATRICS

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Neonatal non-ketotic hyperglycinemia

(2011) M. Nicolasjilwan et al.   JOURNAL OF NEURORADIOLOGY

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

Metabolic and monogenic causes of seizures in neonates and young infants

(2011) Johan L.K. Van Hove et al.   MOLECULAR GENETICS AND METABOLISM

Neuropathology of Menkes' Disease

(2010) R. O. Barnard et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

(2010) BERNHARD SCHMITT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Epileptic phenotypes in children with respiratory chain disorders

(2010) Sandra El Sabbagh et al.   EPILEPSIA

Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates

(2010) L.K. Prashanth et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

(2009) Arvid Suls et al.   ANNALS OF NEUROLOGY

Management of West Syndrome in a Patient With Methylmalonic Aciduria

(2009) Philippe M. Campeau et al.   JOURNAL OF CHILD NEUROLOGY

Epilepsy and inborn errors of metabolism in children

(2009) N. I. Wolf et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Basal ganglia neuroprotection with anticonvulsants after energy stress: a comparative study

(2009) S. Arpin et al.   METABOLIC BRAIN DISEASE

Epilepsy in Inherited Metabolic Disorders

(2009) Juan M Pascual et al.   NEUROLOGIST

Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions

(2008) Young Mock Lee et al.   EPILEPSIA

Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features

(2008) Nicole I. Wolf et al.   EPILEPSIA

Approach to inborn errors of metabolism presenting in the neonate

(2008) Suvasini Sharma et al.   INDIAN JOURNAL OF PEDIATRICS

Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies

(2008) D. Khurana et al.   NEUROPEDIATRICS

Neonatal Diagnosis and Treatment of Menkes Disease

(2008) Stephen G. Kaler et al.   NEW ENGLAND JOURNAL OF MEDICINE

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

(2007) Angeles Ruiz et al.   MOLECULAR GENETICS AND METABOLISM