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Melanie Cote - One of the best experts on this subject based on the ideXlab platform.
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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.
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Mutations in SYNGAP1 in autosomal nonsyndromic Mental Retardation.
New England Journal of Medicine, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Melanie Cote, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Yan Yang, Elizabeth Perreau-linck, Lionel CarmantAbstract:Although autosomal forms of nonsyndromic Mental Retardation account for the majority of cases of Mental Retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse function, in 94 patients with nonsyndromic Mental Retardation. We identified de novo truncating mutations (K138X, R579X, and L813RfsX22) in three of these patients. In contrast, we observed no de novo or truncating mutations in SYNGAP1 in samples from 142 subjects with autism spectrum disorders, 143 subjects with schizophrenia, and 190 control subjects. These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic Mental Retardation.
Elizabeth Nevinssaunders - One of the best experts on this subject based on the ideXlab platform.
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incomprehensible crimes defendants with Mental Retardation charged with statutory rape
Social Science Research Network, 2010Co-Authors: Elizabeth NevinssaundersAbstract:Criminal law norms assume that all defendants are alike. But social science research has demonstrated that most defendants with Mental Retardation are unlike their peers of average intelligence in their cognitive and behavioral capacity, a difference with profound effects on their blameworthiness. The law acknowledges this difference in a few limited areas, most notably in the Supreme Court’s categorical exclusion of defendants with Mental Retardation from the death penalty. But while that decision has begun to percolate into the rest of criminal law, it has not yet reached the law of statutory rape. When prosecuted as a strict liability offense, statutory rape precludes the fact-finder from considering the defendant’s state of mind altogether. The total exclusion of mens rea is an anomaly in criminal law, where a finding of guilt typically requires proof not only of an “evil act,” but also of an “evil mind.” Commentators have criticized the strict liability doctrine, but have ignored how the standard is especially unjust when applied to defendants with Mental Retardation. A close analysis of statutory rape law reveals certain assumptions which allow such a low standard of proof for such a significant offense: would-be defendants are presumed to have notice that sex with underage partners is unlawful; to be in the best position to prevent any harm from occurring; and to be deviant, immoral aggressors. When examined in light of research about Mental Retardation, however, these assumptions collapse. Indeed, punishing a person with Mental Retardation without regard to his awareness of the law, social cues, and the nature of his conduct may also run afoul of constitutional due process and proportionate sentencing principles. This article therefore argues that the prosecution of statutory rape should be modified for defendants with Mental Retardation. The government should have to prove that a defendant with Mental Retardation had the mens rea to commit the offense. In addition, this article recommends formalizing the existing ways of addressing the difference in culpability of this population through charging and sentencing. The failure to account for defendants’ Mental Retardation in the context of statutory rape provides just one example of the theoretical and constitutional problems when criminal law disregards people who cannot comprehend the significance of their conduct.
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incomprehensible crimes defendants with Mental Retardation charged with statutory rape
New York University Law Review, 2010Co-Authors: Elizabeth NevinssaundersAbstract:Criminal law generally assumes that all defendants are alike. Social science research, however, has demonstrated that most defendants with Mental Retardation are unlike their peers of average intelligence in their cognitive and behavioral capacities—a difference with profound effects on their blameworthiness. The law acknowledges these differences in a few limited areas, most notably in the Supreme Court’s recent decision excluding defendants with Mental Retardation from death penalty eligibility. But while that decision arguably has begun to percolate into the rest of criminal law, consideration of the unique circumstances facing defendants with Mental Retardation has not yet reached the law of statutory rape.
Fadi F Hamdan - One of the best experts on this subject based on the ideXlab platform.
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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.
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Mutations in SYNGAP1 in autosomal nonsyndromic Mental Retardation.
New England Journal of Medicine, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Melanie Cote, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Yan Yang, Elizabeth Perreau-linck, Lionel CarmantAbstract:Although autosomal forms of nonsyndromic Mental Retardation account for the majority of cases of Mental Retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse function, in 94 patients with nonsyndromic Mental Retardation. We identified de novo truncating mutations (K138X, R579X, and L813RfsX22) in three of these patients. In contrast, we observed no de novo or truncating mutations in SYNGAP1 in samples from 142 subjects with autism spectrum disorders, 143 subjects with schizophrenia, and 190 control subjects. These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic Mental Retardation.
Dan Spiegelman - One of the best experts on this subject based on the ideXlab platform.
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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.
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Mutations in SYNGAP1 in autosomal nonsyndromic Mental Retardation.
New England Journal of Medicine, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Melanie Cote, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Yan Yang, Elizabeth Perreau-linck, Lionel CarmantAbstract:Although autosomal forms of nonsyndromic Mental Retardation account for the majority of cases of Mental Retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse function, in 94 patients with nonsyndromic Mental Retardation. We identified de novo truncating mutations (K138X, R579X, and L813RfsX22) in three of these patients. In contrast, we observed no de novo or truncating mutations in SYNGAP1 in samples from 142 subjects with autism spectrum disorders, 143 subjects with schizophrenia, and 190 control subjects. These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic Mental Retardation.
Stephanie Pellerin - One of the best experts on this subject based on the ideXlab platform.
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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
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de novo stxbp1 mutations in Mental Retardation and nonsyndromic epilepsy
Annals of Neurology, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Amelie Piton, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Anne Lortie, Francois Dubeau, Melanie CoteAbstract: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.
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Mutations in SYNGAP1 in autosomal nonsyndromic Mental Retardation.
New England Journal of Medicine, 2009Co-Authors: Fadi F Hamdan, Dan Spiegelman, Stephanie Pellerin, Melanie Cote, Julie Gauthier, Anne Noreau, Sylvia Dobrzeniecka, Yan Yang, Elizabeth Perreau-linck, Lionel CarmantAbstract:Although autosomal forms of nonsyndromic Mental Retardation account for the majority of cases of Mental Retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse function, in 94 patients with nonsyndromic Mental Retardation. We identified de novo truncating mutations (K138X, R579X, and L813RfsX22) in three of these patients. In contrast, we observed no de novo or truncating mutations in SYNGAP1 in samples from 142 subjects with autism spectrum disorders, 143 subjects with schizophrenia, and 190 control subjects. These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic Mental Retardation.