Search

Your search keyword '"Lortie, Anne"' showing total 3 results
Start Over Author "Lortie, Anne" Journal annals of neurology
3 results on '"Lortie, Anne"'

1. De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

Author

Hamdan, Fadi F., primary, Piton, Amélie, additional, Gauthier, Julie, additional, Lortie, Anne, additional, Dubeau, François, additional, Dobrzeniecka, Sylvia, additional, Spiegelman, Dan, additional, Noreau, Anne, additional, Pellerin, Stéphanie, additional, Côté, Mélanie, additional, Henrion, Edouard, additional, Fombonne, Éric, additional, Mottron, Laurent, additional, Marineau, Claude, additional, Drapeau, Pierre, additional, Lafrenière, Ronald G., additional, Lacaille, Jean Claude, additional, Rouleau, Guy A., additional, and Michaud, Jacques L., additional

Published
2009
Full Text
View/download PDF

2. Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency

Author

Morin, Charles, primary, Dub�, Jacques, additional, Robinson, Brian H., additional, Lacroix, Jacques, additional, Michaud, Jean, additional, De Braekeleer, Marc, additional, Geoffroy, Guy, additional, Lortie, Anne, additional, Blanchette, Christine, additional, Lambert, Marie A., additional, and Mitchell, Grant A., additional

Published
1999
Full Text
View/download PDF

3. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Author

Hamdan, Fadi F., Piton, Amélie, Gauthier, Julie, Lortie, Anne, Dubeau, François, Dobrzeniecka, Sylvia, Spiegelman, Dan, Noreau, Anne, Pellerin, Stéphanie, Côté, Mélanie, Henrion, Edouard, Fombonne, Éric, Mottron, Laurent, Marineau, Claude, Drapeau, Pierre, Lafrenière, Ronald G., Lacaille, Jean Claude, Rouleau, Guy A., and Michaud, Jacques L.

Abstract

We sequenced genes coding for components of the SNARE complex ( STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. Reverse transcriptase polymerase chain reaction and sequencing showed that the splicing mutation creates a stop codon downstream of exon-3. No de novo or deleterious mutations in STXBP1 were found in 190 control subjects, or in 142 autistic patients. These results suggest that STXBP1 disruption is associated with autosomal dominant mental retardation and nonsyndromic epilepsy. Ann Neurol 2009;65:748-753 [ABSTRACT FROM AUTHOR]

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results