Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy

Molecular Biology Reports

Volumn 40, Issue 1, 2013, Pages 487-490

  Tlili, Abdelaziz ^a   Hamida Hentati, Nadia ^b   Gargouri, Abdellatif ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

Author keywords

ALDH7A1; Computing analysis; Novel pathogenic variant; Pyridoxine dependent epilepsy

Indexed keywords

ANTICONVULSIVE AGENT; PYRIDOXINE;

ALDH7A1 GENE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CASE REPORT; DNA EXTRACTION; EPILEPTOGENESIS; ETHNIC GROUP; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PROTEIN FUNCTION; PROTEIN STRUCTURE; PYRIDOXINE DEPENDENT EPILEPSY; SEIZURE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; TREATMENT RESPONSE; TUNISIAN;

ALDEHYDE DEHYDROGENASE; AMINO ACID SEQUENCE; BASE SEQUENCE; EPILEPSY; FAMILY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ALIGNMENT; TUNISIA;

EID: 84871317804     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-2084-z     Document Type: Article

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