Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

Epilepsia

Volumn 50, Issue 4, 2009, Pages 933-936

  Striano, Pasquale ^b,c   Battaglia, Silvia ^d   Giordano, Lucio ^d   Capovilla, Giuseppe ^e   Beccaria, Francesca ^e   Struys, Eduard A ^a   Salomons, Gajja S ^a   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d SPEDALI CIVILI   (Italy)

^e CARLO POMA HOSPITAL   (Italy)

Author keywords

ALDH7A1 mutation; Antiquitin; Pyridoxine dependent seizures; Vitamin B6

Indexed keywords

ALDEHYDE DEHYDROGENASE; AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; ANTIQUITIN; CARBAMAZEPINE; LORAZEPAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SEIZURE;

ALDEHYDE DEHYDROGENASE; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; PHARMACOGENETICS; PYRIDOXINE; SEIZURES; VITAMIN B COMPLEX;

EID: 63849243167     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2008.01741.x     Document Type: Article

References (14)

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