Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation

Psychiatric Genetics

Volumn 18, Issue 1, 2008, Pages 40-42

  Di Rosa, Gabriella ^a   Pustorino, Giuseppina ^a   Spano, Maria ^a   Campion, Dominique ^b   Calabrò, Marilena ^a   Aguennouz, Mohammed ^a   Caccamo, Daniela ^a   Legallic, Solenn ^b   Sgro, Domenica Lucia ^a   Bonsignore, Maria ^a   Tortorella, Gaetano ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b INSERM   (France)

Author keywords

Behavioral disorders; Epilepsy; Hyperprolinemia type I; Mental retardation; PRODH genotype

Indexed keywords

PROLINE DEHYDROGENASE;

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; COGNITIVE DEFECT; CORRELATION ANALYSIS; EPILEPSY; FEMALE; GENE MUTATION; GENETIC DIFFERENCE; GENOTYPE; HUMAN; HYPERPROLINEMIA; IN VITRO STUDY; INFANT; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; EPILEPSY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; INFANT; ITALY; MALE; MENTAL RETARDATION; MUTATION; PROLINE OXIDASE;

EID: 38149040277     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/YPG.0b013e3282f08a3d     Document Type: Article

References (8)

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