title: Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.
abstract: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: T
authors.initials: T
authors.lastname: Ben Younes
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Electronic address: kraoua_ichraf@yahoo.fr.
authors.forename: I
authors.initials: I
authors.lastname: Kraoua
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Benrhouma
authors.affiliation: UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: F
authors.initials: F
authors.lastname: Nasrallah
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Ben Achour
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Klaa
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: A
authors.initials: A
authors.lastname: Hassen-Rouissi
authors.affiliation: Department of Neuroradiology National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: C
authors.initials: C
authors.lastname: Drissi
authors.affiliation: Department of Biochemistry Hormonology, Robert-Debré Hospital, 75935 Paris cedex, France.
authors.forename: J-F
authors.initials: JF
authors.lastname: Benoist
authors.affiliation: Child Neurology, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, rue Jbel Lakhdhar, La Rabta Jebbari, 1007 Tunis, Tunisia; UR 12SP24 National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: I
authors.initials: I
authors.lastname: Ben Youssef-Turki
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003241:Consanguinity; D003337:Corpus Callosum / Q000473:pathology; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D014416:Tunisia