An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)

Annals of Neurology

Volumn 62, Issue 4, 2007, Pages 414-418

  Salomons, Gajja S ^a   Bok, Levinus A ^b   Struys, Eduard A ^a   Pope, Lorna Landegge ^a   Darmin, Patricia S ^a   Mills, Philippa B ^c   Clayton, Peter T ^c   Willemsen, Michèl A ^d   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MÁXIMA MEDICAL CENTER   (Netherlands)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; ANTICONVULSIVE AGENT; PYRIDOXINE;

ALDH7A1 GENE; ANTIQUITIN GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; ENZYME DEFICIENCY; EPILEPSY; EPILEPTOGENESIS; FOUNDER EFFECT; GENE; GENE MUTATION; HUMAN; MISSENSE MUTATION; NETHERLANDS; PRIORITY JOURNAL;

ADULT; ALDEHYDE DEHYDROGENASE; EPILEPSY; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MUTATION;

EID: 36148958973     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21206     Document Type: Article

References (7)

1. Hunt AD Jr, Stokes J Jr, McCrory WW, et al. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954;13:140-145.
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