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Total 442 results found since Jan 2013.

Prevalence of neuropsychiatric symptoms associated with malformations of cortical development.
CONCLUSIONS: Neuropsychiatric symptoms are commonly associated with MCD, but psychiatric disorders may be underrecognized given that only half of the patients with psychiatric symptoms were referred for a specialized consultation. The presence of intellectual disability and family psychiatric history may help identify and predict risk of psychiatric manifestations in MCD. PMID: 30731297 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - February 4, 2019 Category: Neurology Authors: Ho CSH, Dubeau F, Séguin R, Ducharme S Tags: Epilepsy Behav Source Type: research

Updated Imaging Findings in Congenital Zika Syndrome: A Disease Story That is Still Being Written
In congenital Zika virus syndrome (CZS), the most frequent radiological findings are calcifications in the cortical–white matter junction and malformations of cortical development (pachygyria or polymicrogyria, which occur predominantly in the frontal lobes, or a simplified gyral pattern), ventriculomegaly, enlargement of the cisterna magna and the extra-axial subarachnoid space, corpus callosum abnormalities, and reduced brain volume. This syndrome can also result in a decrease in the brainstem and cerebellum volumes and delayed myelination. Infants with CZS may show venous thrombosis and lenticulostriate vasculopathies...
Source: Topics in Magnetic Resonance Imaging - February 1, 2019 Category: Radiology Tags: Review Articles Source Type: research

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three of which are recurrent, and three truncating variants. Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants.
Source: The American Journal of Human Genetics - January 3, 2019 Category: Genetics & Stem Cells Authors: Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria T. Bonati, Campbell Brasington, Megan T. Cho, Laurie A. Demmer, Tzipora Falik-Zaccai, Candace N. Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Ma Tags: Article Source Type: research

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
CONCLUSION: The combination of LR-PCR amplification and medical exome sequencing allows mutational assessment in tubulinopathy genes. Our study expands the spectrum of malformations associated with mutations in the β-tubulin gene TUBB2B. PMID: 30585108 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - December 27, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Abstract Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. Turk J Pediatr 2018; 60: 229-237. Polymicrogyria is a disorder of neuronal migration characterized by excessive cortical folding and partially fused gyri separated by shallow sulci. Homozygous mutations in the GPR56 gene, which regulates migration of neural precursor cells, are associated with bilateral frontoparietal polymicrogyria (BFPP) syndrome includi...
Source: The Turkish Journal of Pediatrics - December 5, 2018 Category: Pediatrics Authors: Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S Tags: Turk J Pediatr Source Type: research

Sulcal pits and patterns in developing human brains
Publication date: 15 January 2019Source: NeuroImage, Volume 185Author(s): Kiho Im, P. Ellen GrantAbstractSpatial distribution and specific geometric and topological patterning of early sulcal folds have been hypothesized to be under stronger genetic control and are more associated with optimal organization of cortical functional areas and their white matter connections, compared to later developing sulci. Several previous studies of sulcal pit (putative first sulcal fold) distribution and sulcal pattern analyses using graph structures have provided evidence of the importance of sulcal pits and patterns as remarkable anatom...
Source: NeuroImage - November 29, 2018 Category: Neuroscience Source Type: research

Invasive evaluation in children (SEEG vs subdural grids)
Publication date: Available online 16 November 2018Source: SeizureAuthor(s): Delphine TaussigAbstractDesigned from the 60 s to the 80 s for adults, and despite the development of many new techniques, invasive explorations still have indications in children with focal drug-resistant epilepsy. The main types are stereoelectroencephalography (SEEG) and subdural explorations (SDE). They provide precise information on the localization of the epileptogenic zone (EZ), its relationships with eloquent cortex, and the feasibility of performing a tailored surgical resection. Thermocoagulations, which are a diagnostic and therapeu...
Source: Seizure - November 17, 2018 Category: Neurology Source Type: research

Further refinement of COL4A1 and COL4A2 related cortical malformations.
CONCLUSIONS: Our study further emphasizes the need to search for both COL4A1 and COL4A2 mutations in children presenting with uni- or bilateral polymicrogyria with schizencephaly, even in the absence of intracranial microbleeds, calcification or associated systemic features. PMID: 30315939 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - October 10, 2018 Category: Genetics & Stem Cells Authors: Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N Tags: Eur J Med Genet Source Type: research

Neonatal HCMV-related polymicrogyria in seroimmune women: what is the optimal pregnancy management?
Congenital HCMV is the most common congenital infection in developed countries with vertical transmission occurring following both primary (32%) and non-primary (1.4%) maternal infection. [1]. In the latter, whether congenital infection is a consequence of maternal reactivation of the latent HCMV strain(s), or of maternal reinfection with a new strain, is an issue that remains undefined. However, recent studies have argued that maternal super-infection with a serologically distinct HCMV strain could play a significant role in congenital HCMV infection [2].
Source: Journal of Clinical Virology - October 3, 2018 Category: Virology Authors: Maurizio Zavattoni, Giuseppina Lombardi, Francesca Garofoli, Guido Scalia, Annalisa Rizzo, Micol Angelini, Antonella Sarasini, Milena Furione, Fausto Baldanti Source Type: research

The role of surgery in refractory epilepsy secondary to polymicrogyria in the pediatric population
Epilepsia, EarlyView.
Source: Epilepsia - September 11, 2018 Category: Neurology Authors: Ibrahim Jalloh , Newton Cho , Vincent D.W. Nga , Robyn Whitney , Puneet Jain , Sameer Al ‐Mehmadi , Ivanna Yau , Hidehiro Okura , Elysa Widjaja , Hiroshi Otsubo , Ayako Ochi , Elizabeth Donner , Blathnaid McCoy , James Drake , Source Type: research

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Publication date: Available online 23 August 2018Source: NeuronAuthor(s): Richard S. Smith, Connor J. Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, R. Sean Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna-Kaisa Anttonen, Jaakko Ignatius, Livija Medne, Carsten G. Bönnemann, Jonathan L. Hecht, Oili Salonen, A. James Barkovich, Annapurna Poduri, Martina Wilke, Marie Claire Y. de WitSummaryChannelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3...
Source: Neuron - August 24, 2018 Category: Neuroscience Source Type: research

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Abstract Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. The patient showed early onset primary microcephaly, detected in the fetal period, postnatal growth restriction, encephalopathy with hyperkinetic movement disorders and s...
Source: European Journal of Medical Genetics - August 16, 2018 Category: Genetics & Stem Cells Authors: Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N Tags: Eur J Med Genet Source Type: research

Assessing Corticospinal Tract Asymmetry in Unilateral Polymicrogyria PEDIATRICS
CONCLUSIONS: Visual assessment of corticospinal tract asymmetry in unilateral polymicrogyria involving the motor cortex is most reliable with T1WI and color-coded DTI maps at the level of the midbrain. Pronounced asymmetry predicts preserved motor function after hemispherectomy. DTI-based tractography can be used as a guidance tool to the motor cortex within polymicrogyria.
Source: American Journal of Neuroradiology - August 14, 2018 Category: Radiology Authors: Foesleitner, O., Nenning, K.- H., Traub-Weidinger, T., Feucht, M., Bonelli, S., Czech, T., Dorfer, C., Prayer, D., Kasprian, G. Tags: PEDIATRICS Source Type: research

Tubulin mutations and ophthalmic manifestations: a pediatric case series
We present an observational case series of children diagnosed with a tubulinopathy, with emphasis on ophthalmic manifestations.
Source: Journal of AAPOS - August 1, 2018 Category: Opthalmology Authors: Vasiliki Panteli, Alki Liasis, Richard Bowman Tags: Poster Source Type: research

Tubulin genes and malformations of cortical development.
Abstract A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin subclasses (alpha- and beta-tubulin) share high sequence and structural homology. These globular proteins form heterodimers and subsequently co-assemble into microtubules. Microtubules are dynamic, cytoskeletal polymers which play key roles in cellular processes crucial for cortical development, including neuronal...
Source: European Journal of Medical Genetics - July 14, 2018 Category: Genetics & Stem Cells Authors: Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD Tags: Eur J Med Genet Source Type: research