Pyridoxine-dependent epilepsy in zebrafish caused by aldh7a1 deficiency

Genetics

Volumn 207, Issue 4, 2017, Pages 1501-1518

  Pena, Izabella A ^a,b   Roussel, Yann ^b   Daniel, Kate ^a   Mongeon, Kevin ^a,b   Johnstone, Devon ^a,b   Mendes, Hellen Weinschutz ^b   Bosma, Marjolein ^c   Saxena, Vishal ^b   Lepage, Nathalie ^a   Chakraborty, Pranesh ^a   Dyment, David A ^a,b   van Karnebeek, Clara D M ^c,d   Verhoeven Duif, Nanda ^e   Bui, Tuan Vu ^b   Boycott, Kym M ^a,b   Ekker, Marc ^b   Mackenzie, Alex ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Aldh7a1; Lysine metabolism; Metabolic epilepsy; Pyridoxine dependent epilepsy; Zebrafish model

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID RECEPTOR; ALPHA AMINOADIPIC SEMIALDEHYDE DEHYDROGENASE; GENOMIC DNA; LYSINE; MORPHOLINO OLIGONUCLEOTIDE; OXIDOREDUCTASE; PYRIDOXINE; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; ALDH7A1 PROTEIN, HUMAN;

ADULT; AMINO ACID METABOLISM; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CATABOLISM; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; CONTROLLED STUDY; ENZYME DEFICIENCY; EPILEPSY; EPILEPTIC DISCHARGE; GENE INACTIVATION; GENE SILENCING; GENOTYPE; GERMLINE MUTATION; LARVA; NONHUMAN; OSMOTIC STRESS; OXIDATIVE STRESS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PYRIDOXINE DEFICIENCY; PYRIDOXINE DEPENDENT EPILEPSY; ZEBRA FISH; ANIMAL; DEFICIENCY; DISEASE MODEL; GENE KNOCKOUT; GENETICS; HUMAN; METABOLISM; MUTATION; PATHOPHYSIOLOGY; SEIZURE;

ALDEHYDE DEHYDROGENASE; ANIMALS; DISEASE MODELS, ANIMAL; EPILEPSY; GAMMA-AMINOBUTYRIC ACID; GENE KNOCKOUT TECHNIQUES; HUMANS; LYSINE; MUTATION; PYRIDOXINE; SEIZURES; VITAMIN B 6; ZEBRAFISH;

EID: 85037058930     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.117.300137     Document Type: Article

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