A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies

European Journal of Paediatric Neurology

Volumn 16, Issue 2, 2012, Pages 179-191

  Mastrangelo, Mario ^a   Celato, Andrea ^a   Leuzzi, Vincenzo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Children; Early onset epileptic encephalopathies; Genetic epilepsies; Metabolic epilepsies

Indexed keywords

BIOTIN; CREATINE; FOLINIC ACID; GLYCINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; SERINE;

ALGORITHM; BIOTIN METABOLIC DISORDER; CLINICAL EVALUATION; CLINICAL PRACTICE; CREATINE DEFICIENCY SYNDROME; DIAGNOSTIC ALGORITHM; DIFFUSION WEIGHTED IMAGING; DISEASE ASSOCIATION; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; EPILEPSY; HEREDITY; HUMAN; HYPERPROLINEMIA; LABORATORY TEST; MEDICAL DECISION MAKING; METABOLIC DISORDER; MOLECULAR GENETICS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SERINE BIOSYNTHESIS DISORDER; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SYMPTOM;

ALGORITHMS; BIOLOGICAL MARKERS; BRAIN DISEASES; BRAIN DISEASES, METABOLIC; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; MAGNETIC RESONANCE IMAGING; NEUROIMAGING; PHENOTYPE; SYNDROME;

EID: 84857363534     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.07.015     Document Type: Review

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