The Experts below are selected from a list of 603 Experts worldwide ranked by ideXlab platform
Edoardo Boncinelli - One of the best experts on this subject based on the ideXlab platform.
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A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2
European Journal of Human Genetics, 1997Co-Authors: Antonio Faiella, Tiziana Granata, Giorgio Battaglia, Silvia Brunelli, Ludovico D’incerti, Roldano Cardini, Carlo Lenti, Edoardo BoncinelliAbstract:We report here that some patients affected by Schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of Schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.
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germline mutations in the homeobox gene emx2 in patients with severe Schizencephaly
Nature Genetics, 1996Co-Authors: Silvia Brunelli, Antonio Simeone, Armando Cama, Valeria Capra, Antonio Faiella, Vincenzo Nigro, Edoardo BoncinelliAbstract:Schizencephaly1 is an extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with grey matter and most commonly involve the parasylvian regions2. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. We examined eight severely affected patients, and found three who are heterozygous for different mutations in the EMX2 homeobox gene, the human cognate of murine Emx2 (refs 3,4) that is expressed in proliferating neuroblasts of the developing cerebral cortex. One of these mutations is a frameshift in the homeodomain resulting in the alteration of its carboxy terminus, including the entire recognition helix. The other two are 3′ splice site mutations in the first intron, upstream from the homeodomain, and prevent the appropriate splicing of EMX2 transcripts in vitro. All of these are de novo mutations, as they are not present in the patients' parents. The presence of different mutations in cases of severe Schizencephaly suggests a requirement of the EMX2 protein for the correct formation of the human cerebral cortex.
Augustin M Ogorman - One of the best experts on this subject based on the ideXlab platform.
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septo optic dysplasia plus a spectrum of malformations of cortical development
Neurology, 2000Co-Authors: Steven P Miller, Michael Shevell, Yves Patenaude, C Poulin, Augustin M OgormanAbstract:Article abstract The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. All three children had developmental delay, and two of the children had significant associated motor deficits. The associated cortical malformations with SOD include a spectrum of disorders of neuronal organization, not limited, as previously described, to Schizencephaly. SOD-plus should be suspected in children with SOD and developmental delay.
Rn Sener - One of the best experts on this subject based on the ideXlab platform.
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Schizencephaly and congenital cytomegalovirus infection
Masson Editeur, 1998Co-Authors: Rn SenerAbstract:WOS: 000075513000013PubMed ID: 9763793Congenital cytomegalovirus (CMV) infection is known to be associated with some of the disorders of neuronal migration and organization, including gray matter heterotopias, and polymicrogyria. We report a patient with Schizencephaly and congenital CMV infection
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Anterior (atypical) callosal absence due to cortical dysplasia and Schizencephaly
Masson Editeur, 1998Co-Authors: Rn SenerAbstract:WOS: 000072892000008PubMed ID: 9585631The corpus callosum develops from anterior to posterior, starting at the commissural plate of the lamina terminalis. We report a patient with cortical dysplasia and Schizencephaly, which apparently interfered with the normal callosal development before 20 gestational weeks. The result was an atypical callosal dysgenesis in which the anterior parts (including anterior body, genu and rostrum) were absent while the remaining parts were developed. This finding suggests that the commissural plate may not be the only region where the corpus callosum starts to develop in some congenital brain malformations
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Coexistence of Schizencephaly and middle cranial fossa arachnoid cyst: A report of two patients
'Springer Science and Business Media LLC', 1997Co-Authors: Rn SenerAbstract:WOS: A1997WV61800022PubMed ID: 9087367Two patients are presented with large cerebral schizencephalic clefts and large temporal arachnoid cysts. Neuropathological studies suggest that arachnoid cysts may either arise due to an aberration in the formation of the subarachnoid space or by its splitting. A recently proposed theory for the formation of Schizencephaly is that this condition is an extreme variant of cortical dysplasia, in which the infolding of cortex extends all the way into the lateral ventricle. In light of these data, and based on the imaging findings in our two patients with large cerebral schizencephalic clefts and large temporal arachnoid cysts, we propose that the mechanism which causes Schizencephaly (deep cortical infolding) may lead to some kind of a traction effect and splitting of the leptomeninges resulting in the formation of an arachnoid cyst adjacent to the schizencephalic cleft. This appears to be a significant observation because the pathogenesis of arachnoid cysts is still controversial
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Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia)
Masson Editeur, 1996Co-Authors: Rn SenerAbstract:WOS: A1996WP95500012PubMed ID: 9107111It is generally accepted that there are two subsets of septo-optic dysplasia (deMorsier's syndrome), one with Schizencephaly and the other without Schizencephaly. A third form of the anomaly which is associated with callosal absence has also been described. Except for Schizencephaly, the association of septo-optic dysplasia with another major type of disorder of neuronal migration and organization such as cortical dysplasia, has not yet been reported. We report the MR imaging examination of a 3-year-old patient with bilateral rolandic cortical dysplasia, and with apparent thinning of the optic nerves, and absent septum pellucidum (septo-optic dysplasia) as a new combination. This can be labelled as cortico-septooptic dysplasia
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Septo-optic dysplasia (de Morsier's syndrome) associated with total callosal absence - A new type of the anomaly
Masson Editeur, 1996Co-Authors: Rn SenerAbstract:WOS: A1996VT86300006PubMed ID: 8948159It is currently believed that there are two subsets of septo-optic dysplasia (de Morsier's syndrome), one with Schizencephaly and the other without Schizencephaly. Also, some authors consider septo-optic dysplasia as a mild form of holoprosencephaly. This article describes a third form of the anomaly which is associated with total callosal absence. Two patients similar to this one have previously been reported. None of these three patients had interhemispheric fusion in any form, excluding holoprosencephaly. They had normal facies, All of them presented with seizures, and no hormonal abnormality was found. This new clinicoradiological type of the anomaly is suggested to be labelled as calloso-septo-optic or calloso-optic dysplasia
Silvia Brunelli - One of the best experts on this subject based on the ideXlab platform.
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A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2
European Journal of Human Genetics, 1997Co-Authors: Antonio Faiella, Tiziana Granata, Giorgio Battaglia, Silvia Brunelli, Ludovico D’incerti, Roldano Cardini, Carlo Lenti, Edoardo BoncinelliAbstract:We report here that some patients affected by Schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of Schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.
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germline mutations in the homeobox gene emx2 in patients with severe Schizencephaly
Nature Genetics, 1996Co-Authors: Silvia Brunelli, Antonio Simeone, Armando Cama, Valeria Capra, Antonio Faiella, Vincenzo Nigro, Edoardo BoncinelliAbstract:Schizencephaly1 is an extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with grey matter and most commonly involve the parasylvian regions2. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. We examined eight severely affected patients, and found three who are heterozygous for different mutations in the EMX2 homeobox gene, the human cognate of murine Emx2 (refs 3,4) that is expressed in proliferating neuroblasts of the developing cerebral cortex. One of these mutations is a frameshift in the homeodomain resulting in the alteration of its carboxy terminus, including the entire recognition helix. The other two are 3′ splice site mutations in the first intron, upstream from the homeodomain, and prevent the appropriate splicing of EMX2 transcripts in vitro. All of these are de novo mutations, as they are not present in the patients' parents. The presence of different mutations in cases of severe Schizencephaly suggests a requirement of the EMX2 protein for the correct formation of the human cerebral cortex.
Antonio Faiella - One of the best experts on this subject based on the ideXlab platform.
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A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2
European Journal of Human Genetics, 1997Co-Authors: Antonio Faiella, Tiziana Granata, Giorgio Battaglia, Silvia Brunelli, Ludovico D’incerti, Roldano Cardini, Carlo Lenti, Edoardo BoncinelliAbstract:We report here that some patients affected by Schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of Schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.
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germline mutations in the homeobox gene emx2 in patients with severe Schizencephaly
Nature Genetics, 1996Co-Authors: Silvia Brunelli, Antonio Simeone, Armando Cama, Valeria Capra, Antonio Faiella, Vincenzo Nigro, Edoardo BoncinelliAbstract:Schizencephaly1 is an extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with grey matter and most commonly involve the parasylvian regions2. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. We examined eight severely affected patients, and found three who are heterozygous for different mutations in the EMX2 homeobox gene, the human cognate of murine Emx2 (refs 3,4) that is expressed in proliferating neuroblasts of the developing cerebral cortex. One of these mutations is a frameshift in the homeodomain resulting in the alteration of its carboxy terminus, including the entire recognition helix. The other two are 3′ splice site mutations in the first intron, upstream from the homeodomain, and prevent the appropriate splicing of EMX2 transcripts in vitro. All of these are de novo mutations, as they are not present in the patients' parents. The presence of different mutations in cases of severe Schizencephaly suggests a requirement of the EMX2 protein for the correct formation of the human cerebral cortex.
