Cortical Brain Malformations

Abstract

Background: Malformations of cortical development (MCDs) are a major source of handicap. Much progress in understanding the genetic causes has been made recently. The number of affected children in whom a molecularly confirmed diagnosis can be made is unclear. Objective: To evaluate the etiology of MCDs in children and the effect of a combined radiological, clinical, and syndrome classification.

Deep brain stimulation modulates nonsense-mediated RNA decay in Parkinson’s patients leukocytes

“…On average, 67% of the events were associated with more than one functional event, and alternative N- terminus showed the largest overlap with other functional predictions (Figure 2Aiii). The detected genes included the kinesin family member 1 binding protein KIAA1279, previously identified as related to cortical brain malformations [38]. One of the mixed cohort detected genes, RPL10 also showed general gene level expression change detected previously by transcript-level analysis of our advanced PD patient’s cohort exon array data [35].…”

Deep brain stimulation modulates nonsense-mediated RNA decay in Parkinson’s patients leukocytes

“…On average, 67% of the events were associated with more than one functional event, and alternative N- terminus showed the largest overlap with other functional predictions (Figure 2Aiii). The detected genes included the kinesin family member 1 binding protein KIAA1279, previously identified as related to cortical brain malformations [38]. One of the mixed cohort detected genes, RPL10 also showed general gene level expression change detected previously by transcript-level analysis of our advanced PD patient’s cohort exon array data [35].…”

Combined cardiological and neurological abnormalities due to filamin A gene mutation

“…From our ongoing database of patients with malformations of cortical development, we identified 24 patients with bilateral PNH without other cerebral cortical malformations [8]. In six patients this was due to a pathogenic mutation in FLNA .…”

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

“…The evaluation process include accurate classification based on neuroimaging analysis, detailed family history and a search for gestational insults as possible non-genetic causes of the malformation. Dr. Mancini and her team were able to link monogenetic mutations, chromosomal anomalies and copy number variations to patients presenting various MCDs including microcephaly, lissencephaly, pachygyria, subcortical band heterotopia, cobblestone-type lissencephalies, polymicrogyria (PMG) and schizencephaly (de Wit et al, 2008; Meuwissen et al, 2016; Oegema et al, 2017; Dobyns et al, 2018; Vandervore et al, 2019). In this process, the availability of next generation sequencing tools, open access databases allowing exchange of variants and the multidisciplinary interaction at local and international level have proved great effectiveness.…”

Deep brain stimulation modulates nonsense-mediated RNA decay in Parkinson’s patients leukocytes

“…On average, 67% of the events were associated with more than one functional event, and alternative N- terminus showed the largest overlap with other functional predictions (Figure 2Aiii). The detected genes included the kinesin family member 1 binding protein KIAA1279, previously identified as related to cortical brain malformations [38]. One of the mixed cohort detected genes, RPL10 also showed general gene level expression change detected previously by transcript-level analysis of our advanced PD patient’s cohort exon array data [35].…”

Combined cardiological and neurological abnormalities due to filamin A gene mutation

“…From our ongoing database of patients with malformations of cortical development, we identified 24 patients with bilateral PNH without other cerebral cortical malformations [8]. In six patients this was due to a pathogenic mutation in FLNA .…”

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

“…The evaluation process include accurate classification based on neuroimaging analysis, detailed family history and a search for gestational insults as possible non-genetic causes of the malformation. Dr. Mancini and her team were able to link monogenetic mutations, chromosomal anomalies and copy number variations to patients presenting various MCDs including microcephaly, lissencephaly, pachygyria, subcortical band heterotopia, cobblestone-type lissencephalies, polymicrogyria (PMG) and schizencephaly (de Wit et al, 2008; Meuwissen et al, 2016; Oegema et al, 2017; Dobyns et al, 2018; Vandervore et al, 2019). In this process, the availability of next generation sequencing tools, open access databases allowing exchange of variants and the multidisciplinary interaction at local and international level have proved great effectiveness.…”

Deep brain stimulation modulates nonsense-mediated RNA decay in Parkinson’s patients leukocytes

“…On average, 67% of the events were associated with more than one functional event, and alternative N- terminus showed the largest overlap with other functional predictions (Figure 2Aiii). The detected genes included the kinesin family member 1 binding protein KIAA1279, previously identified as related to cortical brain malformations [38]. One of the mixed cohort detected genes, RPL10 also showed general gene level expression change detected previously by transcript-level analysis of our advanced PD patient’s cohort exon array data [35].…”

Combined cardiological and neurological abnormalities due to filamin A gene mutation

“…From our ongoing database of patients with malformations of cortical development, we identified 24 patients with bilateral PNH without other cerebral cortical malformations [8]. In six patients this was due to a pathogenic mutation in FLNA .…”

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

“…The evaluation process include accurate classification based on neuroimaging analysis, detailed family history and a search for gestational insults as possible non-genetic causes of the malformation. Dr. Mancini and her team were able to link monogenetic mutations, chromosomal anomalies and copy number variations to patients presenting various MCDs including microcephaly, lissencephaly, pachygyria, subcortical band heterotopia, cobblestone-type lissencephalies, polymicrogyria (PMG) and schizencephaly (de Wit et al, 2008; Meuwissen et al, 2016; Oegema et al, 2017; Dobyns et al, 2018; Vandervore et al, 2019). In this process, the availability of next generation sequencing tools, open access databases allowing exchange of variants and the multidisciplinary interaction at local and international level have proved great effectiveness.…”