Inborn errors of metabolism causing epilepsy

Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment

(2012) Hiroko Kodama et al.   CURRENT DRUG METABOLISM

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

(2012) Philippa B. Mills et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

(2011) Siddharth Banka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

(2011) Holger Cario et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Menkes disease and infantile epilepsy

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

GLUT1 deficiency syndrome in clinical practice

(2011) Joerg Klepper   EPILEPSY RESEARCH

Glut1 deficiency: When to suspect and how to diagnose?

(2011) A. Verrotti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

(2011) David Watkins et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pyridoxine dependent epilepsy and antiquitin deficiency

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

The neurology of biotinidase deficiency

(2011) Barry Wolf   MOLECULAR GENETICS AND METABOLISM

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

(2011) Saadet Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Clinical Neuroimaging Features and Outcome in Molybdenum Cofactor Deficiency

(2011) Kayal Vijayakumar et al.   PEDIATRIC NEUROLOGY

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

(2010) Philippa B. Mills et al.   BRAIN

Hematopoietic Stem Cell Transplantation and Hematopoietic Stem Cell Gene Therapy in X-Linked Adrenoleukodystrophy

(2010) Nathalie Cartier et al.   BRAIN PATHOLOGY

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

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

(2010) Jochen Reiss et al.   HUMAN MUTATION

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

(2010) L. Tabatabaie et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

(2010) Megumi Tsuji et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

(2010) Belén Pérez-Dueñas et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical issues and frequent questions about biotinidase deficiency

(2010) Barry Wolf   MOLECULAR GENETICS AND METABOLISM

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

(2010) A. Veldman et al.   PEDIATRICS

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

(2009) Renata C. Gallagher et al.   ANNALS OF NEUROLOGY

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

(2009) CHRISTINE BARNERIAS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

(2009) Nivetha Ramachandran et al.   EPILEPSIA

CONGENITAL NULL MUTATIONS OF THE FOLR1 GENE: A PROGRESSIVE NEUROLOGIC DISEASE AND ITS TREATMENT

(2009) H. Cario et al.   NEUROLOGY

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet

(2008) Jörg Klepper   EPILEPSIA

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

(2008) Nicole I. Wolf et al.   EPILEPSIA

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

(2008) Kutluhan Yilmaz   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia

(2008) A. Boneh et al.   MOLECULAR GENETICS AND METABOLISM

A SUCCESSFULLY TREATED ADULT PATIENT WITH l-2-HYDROXYGLUTARIC ACIDURIA

(2008) M. Samuraki et al.   NEUROLOGY

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neonatal Diagnosis and Treatment of Menkes Disease

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

Relapsing encephalopathy in a patient with  -methylacyl-CoA racemase deficiency

(2007) S A Thompson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY