Article
Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.
Pediatric neurology - 1 Oct 2007
Nectoux Juliette, Girard Benoit, Bahi-Buisson Nadia, Prieur Fabienne, Afenjar Alexandra, Rosas-Vargas Haydee, Chelly Jamel, Bienvenu Thierry
Abstract excerpt
Mutations in the methyl-cytosine-phosphate-guanosine dinucleotide (CpG) binding protein 2 gene are identified in up to 90% of patients with classic Rett syndrome. However, the lack of methyl-CpG binding protein 2 mutations in a small group of classic Rett syndrome cases, and the low frequency of these mutations in atypical Rett syndrome patients, suggest that other gene defects may play a role in this disorder....
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