title: First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
abstract: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). PDE is caused by mutations in the ALDH7A1 gene. Molecular genetic analysis of the ALDH7A1 gene was performed in seven patients, referred with clinical diagnosis of PDE. Mutations were detected in a dizygotic twin pair and a non-related boy with classical form of PDE. Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations. Here, we report the first genetically proven cases of PDE in Bulgaria.
authors.affiliation: Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria. savina.tincheva@gmail.com.|Genetic-Medico Diagnostic Laboratory ''Genica'', 90 "Tsar Asen" Str., 1463, Sofia, Bulgaria. savina.tincheva@gmail.com.
authors.forename: Savina
authors.initials: S
authors.lastname: Tincheva
authors.affiliation: Genetic-Medico Diagnostic Laboratory ''Genica'', 90 "Tsar Asen" Str., 1463, Sofia, Bulgaria.
authors.forename: Tihomir
authors.initials: T
authors.lastname: Todorov
authors.affiliation: Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria.|Genetic-Medico Diagnostic Laboratory ''Genica'', 90 "Tsar Asen" Str., 1463, Sofia, Bulgaria.
authors.forename: Albena
authors.initials: A
authors.lastname: Todorova
authors.affiliation: Neonatology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria.
authors.forename: Ralica
authors.initials: R
authors.lastname: Georgieva
authors.affiliation: Child Neurology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria.
authors.forename: Dimitar
authors.initials: D
authors.lastname: Stamatov
authors.affiliation: Genetic-Medico Diagnostic Laboratory ''Genica'', 90 "Tsar Asen" Str., 1463, Sofia, Bulgaria.
authors.forename: Iglika
authors.initials: I
authors.lastname: Yordanova
authors.affiliation: Genetic-Medico Diagnostic Laboratory ''Genica'', 90 "Tsar Asen" Str., 1463, Sofia, Bulgaria.
authors.forename: Tanya
authors.initials: T
authors.lastname: Kadiyska
authors.affiliation: Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria.
authors.forename: Bilyana
authors.initials: B
authors.lastname: Georgieva
authors.affiliation: Child Neurology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria.
authors.forename: Maria
authors.initials: M
authors.lastname: Bojidarova
authors.affiliation: Child Neurology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria.
authors.forename: Genoveva
authors.initials: G
authors.lastname: Tacheva
authors.affiliation: Child Neurology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria.
authors.forename: Ivan
authors.initials: I
authors.lastname: Litvinenko
authors.affiliation: Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria.
authors.forename: Vanyo
authors.initials: V
authors.lastname: Mitev
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D000927:Anticonvulsants / Q000627:therapeutic use; D002031:Bulgaria; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D019587:Dietary Supplements; D004827:Epilepsy / Q000139:chemically induced / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D011736:Pyridoxine / Q000009:adverse effects*; D012640:Seizures / Q000175:diagnosis / Q000235:genetics
chemical_list: D000927:Anticonvulsants; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine
keywords: ALDH7A1 gene; First Bulgarian cases; Mutation; Pyridoxine-dependent epilepsy