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To investigate a possible association between FACS and <jats:italic>MTHFR<\/jats:italic> genotype, we recruited 200 mothers who had taken anti\u2010epileptic drugs in pregnancy, and delivered at Aberdeen Maternity Hospital over a 26\u2010year period. Clinical findings in the mothers and their 337 children were documented. A clinical algorithm was devised to diagnose FACS objectively. Case\u2010parent triads were genotyped for polymorphisms in <jats:italic>MTHFR,<\/jats:italic> serine hydroxymethyl transferase (<jats:italic>SHMT1<\/jats:italic>), methionine synthase (<jats:italic>MTR<\/jats:italic>), and methionine synthase reductase (<jats:italic>MTRR<\/jats:italic>), and analyzed by log\u2010linear regression. No effect of the child's genotype on congenital malformation, neurodevelopmental disorder or FACS was detected using this method. The risk of having a child with congenital malformation or FACS was three to four times higher for mothers who were <jats:italic>MTHFR<\/jats:italic> 677TT homozygotes compared with <jats:italic>MTHFR<\/jats:italic> 677CC homozygotes. <jats:italic>MTR<\/jats:italic> 2756A\u2009&gt;\u2009G and <jats:italic>MTRR<\/jats:italic> 66A\u2009&gt;\u2009G genotype frequencies in children with FACS and neurodevelopmental disorder were different from those in healthy blood donor controls. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31914","type":"journal-article","created":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T22:46:49Z","timestamp":1189637209000},"page":"2303-2311","source":"Crossref","is-referenced-by-count":24,"title":["Fetal anticonvulsant syndromes and polymorphisms in <i>MTHFR<\/i>, <i>MTR<\/i>, and <i>MTRR<\/i>"],"prefix":"10.1002","volume":"143A","author":[{"given":"John","family":"Dean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoe","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Reid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q. 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