Inborn errors of metabolism causing epilepsy

Developmental Medicine and Child Neurology

Volumn 55, Issue 1, 2013, Pages 23-36

  Rahman, Shamima ^a   Footitt, Emma J ^a   Varadkar, Sophia ^a   Clayton, Peter T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRATE AMINOTRANSFERASE; ACYLCARNITINE; ADENYLOSUCCINATE LYASE; BENZOIC ACID; BIOTIN; BIOTINIDASE; CARBOXYLASE; CATHEPSIN D; COPPER; CREATINE; DEXTROMETHORPHAN; FOLINIC ACID; GLUCOSE; GLUCOSE TRANSPORTER 1; GLYCINE; HISTIDINE; MENKES PROTEIN; MITOCHONDRIAL ENZYME; MOLYBDENUM COMPLEX; PHOSPHOGLYCERATE DEHYDROGENASE; PHOSPHOSERINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; SERINE; SULFITE OXIDASE; UBIDECARENONE; VALPROIC ACID;

ABDOMINAL DISTENSION; ACIDURIA; ACUTE BRAIN DISEASE; ADRENOLEUKODYSTROPHY; ALPERS DISEASE; ATAXIA; BIOTINIDASE DEFICIENCY; BLOOD BRAIN BARRIER; BRAIN ATROPHY; BRAIN MALFORMATION; BRAIN METABOLISM; CHILDHOOD ABSENCE EPILEPSY; CLINICAL FEATURE; CLONIC SEIZURE; CONSCIOUSNESS DISORDER; COPPER METABOLISM; CORPUS CALLOSUM AGENESIS; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; DISORDERS OF CARBOHYDRATE METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROENCEPHALOGRAM; ELECTROLYTE DISTURBANCE; ENCEPHALOMYOPATHY; EPILEPSY; EYE MOVEMENT DISORDER; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; GLYCOGEN STORAGE DISEASE; GM1 GANGLIOSIDOSIS; HUMAN; HYPERAMMONEMIA; HYPERREFLEXIA; HYPOCALCEMIA; HYPOMAGNESEMIA; HYPONATREMIA; HYPOXIC ISCHEMIC ENCEPHALOPATHY; HYPSARRHYTHMIA; INBORN ERROR OF METABOLISM; INFANTILE SPASM; INTRACTABLE EPILEPSY; INTRAUTERINE GROWTH RETARDATION; KETOGENIC DIET; LACTIC ACIDOSIS; LEARNING DISORDER; LENNOX GASTAUT SYNDROME; LEUKODYSTROPHY; LIVER FUNCTION TEST; LUMBAR PUNCTURE; LYSOSOME STORAGE DISEASE; MENKES SYNDROME; METABOLIC ACIDOSIS; MICROCEPHALY; MICROGYRIA; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL RESPIRATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NEUROTOXICITY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PERIPHERAL NEUROPATHY; PHENYLKETONURIA; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN GLYCOSYLATION; PSYCHOMOTOR RETARDATION; PURINE METABOLISM; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; REVIEW; RHABDOMYOLYSIS; SEIZURE; UREA CYCLE; UREA CYCLE DISORDER; WEAKNESS; ZELLWEGER SYNDROME;

AGE FACTORS; EPILEPSY; HUMANS; INFANT; METABOLISM, INBORN ERRORS; PYRIDOXINE; UBIQUINONE;

EID: 84871179279     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04406.x     Document Type: Review

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