title: [Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)].
abstract: Authors summarized the etiology of convulsions in neonatal period and infancy (hypoxia, intracranial hemorrhage, infections of central nervous system, metabolic background, chromosomal abnormalities, brain developmental abnormalities, benign neonatal convulsions, benign neonatal familial convulsions, drug withdrawal, inborn error of metabolism). They suggest screening examinations after convulsion, summarized the basic principle of tandem examination and review a proposal at suspicion of inborn error of enzyme defects (aminoacidemias, defects of fatty acid oxidation, organic acidemias). They present case history of two patients suffered in extraordinary inborn error of enzyme defect (SCO2 gene mutation, propionic acidemia). Diagnosis originated in Helm P61 Hospital (settlement Madarász Hospital) with a Hungarian and international cooperation.
authors.affiliation: Heim Pál Kórház Madarász Utcai Kirendeltsége; 1131 Budapest, Madarász. nandr56@gmail.com
authors.forename: Andrea
authors.initials: A
authors.lastname: Nagy
authors.forename: Zsuzsa
authors.initials: Z
authors.lastname: Szever
authors.forename: Zsuzsa
authors.initials: Z
authors.lastname: Kormos
authors.forename: Emoke
authors.initials: E
authors.lastname: Székely
authors.forename: Edit
authors.initials: E
authors.lastname: Tóth
authors.forename: Lajos
authors.initials: L
authors.lastname: Smidéliusz
authors.forename: Rita
authors.initials: R
authors.lastname: Horváth
authors.forename: Vera
authors.initials: V
authors.lastname: Karcagi
authors.forename: Agnes
authors.initials: A
authors.lastname: Schuler
authors.forename: Eszter
authors.initials: E
authors.lastname: Jávorszky
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D002352:Carrier Proteins / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000150:complications; D002869:Chromosome Aberrations; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D000860:Hypoxia / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000150:complications; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics; D018832:Molecular Chaperones; D009154:Mutation; D018608:Ultrasonography, Doppler
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C400285:SCO2 protein, human; C092928:Surf-1 protein