Metabolic epilepsy: An update

Brain and Development

Volumn 35, Issue 9, 2013, Pages 827-841

  Papetti, Laura ^a   Parisi, Pasquale ^b   Leuzzi, Vincenzo ^a   Nardecchia, Francesca ^a   Nicita, Francesco ^a   Ursitti, Fabiana ^a   Marra, Francesca ^b   Paolino, Maria Chiara ^b   Spalice, Alberto ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Children; Encephalopathy; Genetics; Inherited metabolic disorders; Metabolic epilepsy; Metabolism

Indexed keywords

4 AMINOBUTYRATE AMINOTRANSFERASE; ACYLCARNITINE; ALDEHYDE; ALPHA AMINO ADIPIC SEMIALDEHYDE; AMINO ACID; AMMONIA; ANTICONVULSIVE AGENT; BENZOIC ACID; BIOTIN; CARBOXYLIC ACID; CARNITINE; CERULOPLASMIN; COPPER; COPPER DERIVATIVE; CREATINE; DEXTROMETHORPHAN; DOPAMINE; FOLINIC ACID; GLUCOSE TRANSPORTER 1; HISTIDINE COPPER; HOLOCARBOXYLASE SYNTHETASE; LACTIC ACID; ORNITHINE; OROTIC ACID; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; RIBOFLAVIN; SERINE; SYNTHETASE; UNCLASSIFIED DRUG; UNINDEXED DRUG;

4 AMINOBUTYRATE AMINOTRANSFERASE DEFICIENCY; 4 AMINOBUTYRIC ACID METABOLISM; ACIDEMIA; ADENYLOSUCCINATE LYASE DEFICIENCY; ADRENOLEUKODYSTROPHY; BIOTINIDASE DEFICIENCY; BLOOD ANALYSIS; CEREBROSPINAL FLUID ANALYSIS; COMPLEX I DEFICIENCY; CONGENITAL DISORDER OF GLYCOSYLATION; CREATINE DEFICIENCY; DIET RESTRICTION; DIET THERAPY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF CARBOHYDRATE METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; EPILEPSY; ETHYLMALONIC ENCEPHALOPATHY; EXCHANGE BLOOD TRANSFUSION; FOLINIC ACID RESPONSE SEIZURE; GLUCOSE TRANSPORTER 1 DEFICIENCY; GLUTARIC ACIDEMIA TYPE I; HUMAN; HYPERGLYCINEMIA; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; ISOVALERIC ACIDEMIA; KETOGENIC DIET; LYSOSOME STORAGE DISEASE; MAPLE SYRUP URINE DISEASE; MENKES SYNDROME; METABOLIC ENCEPHALOPATHY; METABOLIC EPILEPSY; METHYLMALONIC ACIDEMIA; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A; MOLECULAR DIAGNOSIS; MYOCLONUS EPILEPSY; NEURONAL CEROID LIPOFUSCINOSIS; NEWBORN DISEASE; NORTHERN EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENYLKETONURIA; PROPIONIC ACIDEMIA; PURINE METABOLISM DEFECT; PYRIDOXAL 5 PHOSPHATE DEPENDENT EPILEPSY; PYRIDOXAMINE 5 PHOSPHATE OXIDASE DEFICIENCY; PYRIDOXINE DEPENDENT SEIZURE; REVIEW; SEIZURE; SERINE BIOSYNTHESIS DEFECT; SINGLE DRUG DOSE; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TRANSIENT NEONATAL HYPERGLYCINEMIA; UREA CYCLE DISORDER; VITAMIN SUPPLEMENTATION; ZELLWEGER SYNDROME;

CHILDREN; ENCEPHALOPATHY; GENETICS; INHERITED METABOLIC DISORDERS; METABOLIC EPILEPSY; METABOLISM;

AGE OF ONSET; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; METABOLIC SYNDROME X;

EID: 84883452270     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.11.010     Document Type: Review

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