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Total 442 results found since Jan 2013.
Microcephaly proteins Wdr62 and Aspm define a mother centriole complex regulating centriole biogenesis, apical complex and cell fate (S46.001)
Conclusions:Our results reveal links between centrioles, apical proteins, and cell fate, and illuminate how altering these interactions can dynamically regulate brain size. The defects of neuroepithelial structure and apical proteins suggest a likely mechanism for previously unexplained structural defects such as polymicrogyria, schizencephaly, and periventricular heterotopia that are commonly observed in WDR62 mutations in humans (Bilguvar et al., 2010; Yu et al., 2010), and occasionally reported in ASPM mutations (Passemard et al., 2009).Study Supported by:This research was supported by the NIH MSTP training grant NIGMS ...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Jayaraman, D., Kodani, A., Gonzalez, D., Mancias, J., Mochida, G., Vagnoni, C., Harper, J. W., Reiter, J., Yu, T., Bae, B.-i., Walsh, C. Tags: Child Neurology: Molecular Biology to Clinical Trials Source Type: research
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Abstract
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report four...
Source: Clinical Genetics - April 7, 2017 Category: Genetics & Stem Cells Authors: Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ Tags: Clin Genet Source Type: research
Fetal brain injury in complicated monochorionic pregnancies: diagnostic yield of prenatal MRI following surveillance ultrasound and influence on prognostic counselling
ConclusionpMRI resulted in changed prognostic counselling in 5/33 pregnancies. Evaluation of incorporation of pMRI into routine surveillance of complicated MCGs is needed.
Source: Prenatal Diagnosis - April 1, 2017 Category: Perinatology & Neonatology Authors: Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen Tags: Original Article Source Type: research
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction. We suppose that the association between PHTS and CIM could be not coincidental, thus extending the spectrum of neurological manifestations of PHTS and highlighting the role of brain MRI in the management of PHTS patients. We suggest that genes within the RAS-MAPK and PI3-AKT pathways might have a significant role in the pathogenesis of CIM in such patients.
PMID: 28286253 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - March 6, 2017 Category: Genetics & Stem Cells Authors: Saletti V, Esposito S, Maccaro A, Giglio S, Valentini LG, Chiapparini L Tags: Eur J Med Genet Source Type: research
Clinical Neuropathology teaching case 2-2017: polymicrogyria in an adult with right-sided spastic hemiparesis.
PMID: 28220750 [PubMed - as supplied by publisher]
Source: Clinical Neuropathology - February 20, 2017 Category: Pathology Authors: Gelpi E, Höftberger R, Beer A, Hainfellner JA Tags: Clin Neuropathol Source Type: research
The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population PEDIATRICS
CONCLUSIONS:
Pediatric patients with hereditary hemorrhagic telangiectasia have a relatively high prevalence of malformations of cortical development, typically perisylvian polymicrogyria.
Source: American Journal of Neuroradiology - February 12, 2017 Category: Radiology Authors: Palagallo, G. J., McWilliams, S. R., Sekarski, L. A., Sharma, A., Goyal, M. S., White, A. J. Tags: PEDIATRICS Source Type: research
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the EPG5‐related phen...
Source: American Journal of Medical Genetics Part A - February 6, 2017 Category: Genetics & Stem Cells Authors: Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marl ène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi‐Buisson Tags: Clinical Report Source Type: research
Genetics Home Reference: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
https://ghr.nlm.nih.gov/condition/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome
Source: NLM General Announcements - February 2, 2017 Category: Databases & Libraries Source Type: news
Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.
This study provides insight into the behavioural consequences of tubulin gene mutations.
PMID: 28130172 [PubMed - as supplied by publisher]
Source: Behavioural Brain Research - January 23, 2017 Category: Neurology Authors: Breuss MW, Hansen AH, Landler L, Keays DA Tags: Behav Brain Res Source Type: research
Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review
Conclusions This is a unique case because the E-ES were recurrent ES, although the previous ES were spontaneous, which may provide insight into the mechanism of E-ES. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text
Source: Neuropediatrics - January 22, 2017 Category: Neurology Authors: Kobayashi, Yoshiyuki Ishikawa, Nobutsune Tani, Hiroo Fujii, Yuji Kobayashi, Masao Tags: Short Communication Source Type: research
Neuroimaging findings of congenital Zika virus infection: a pictorial essay
AbstractZika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-p...
Source: Japanese Journal of Radiology - January 9, 2017 Category: Radiology Source Type: research
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Authors: Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS
Abstract
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have a...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Role of Fetal MRI in the evaluation of isolated and non ‐isolated corpus callosum dysgenesis: results of a cross‐sectional study
ConclusionsCCD is often complicated by other intra and extra‐cranial findings (cortical dysplasias as the most prevalent) that significatively affect the post‐natal prognosis. The present study showed CCD with associated anomalies as more frequent than isolated (73.1%). In isolated forms, severe ventriculomegaly was a reliable herald of future appearance of associated features. This article is protected by copyright. All rights reserved.
Source: Prenatal Diagnosis - November 30, 2016 Category: Perinatology & Neonatology Authors: Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti Tags: Original Article Source Type: research
Second opinion gives unborn baby second chance
Seven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed.
“It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer.
After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April.
Jennifer felt the baby’s first kicks on Nov. 23, 2015.
The next day, she was scheduled for an anatomy scan. “At f...
Source: Thrive, Children's Hospital Boston - November 29, 2016 Category: Pediatrics Authors: Lisa Fratt Tags: Our Patients’ Stories Advanced Fetal Care Center bilateral perisylvian polymicrogyria Dr. Benjamin Warf Dr. Christopher Elitt Second opinion ventriculomegaly Source Type: news
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria
The aim is to evaluate normal-appearing brain regions in isolated unilateral polymicrogyria patients and compare them with controls by using diffusion-weighted imaging and apparent diffusion coefficient. The diffusion-weighted images (b = 0-1000 s/mm2) of 10 pediatric patients (7 boys, 3 girls; mean age = 5.8 ± 4.3 years) with isolated unilateral polymicrogyria and age-sex matched 10 control patients were assessed retrospectively. There was a significant increase in apparent diffusion coefficient values of white matter underlying polymicrogyria, uninvolved white matter, deep gray matter (thalami, lentiform nuclei, c...
Source: Journal of Child Neurology - November 7, 2016 Category: Neurology Authors: Görkem, S. B., Doganay, S., Gumus, K., Bayram, A., Kumandas, S., Coskun, A. Tags: Original Articles Source Type: research
