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https://www.readbyqxmd.com/read/29298944/neuronal-migration-disorders
#1
Benjamin Roberts
Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to provide critical assessment of anatomic and physiologic traits of these disorders to better treat and prevent seizures...
January 2018: Radiologic Technology
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#2
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29247375/a-novel-mutation-in-lamc3-associated-with-generalized-polymicrogyria-of-the-cortex-and-epilepsy
#3
J L Zambonin, D A Dyment, Y Xi, R E Lamont, T Hartley, E Miller, M Kerr, K M Boycott, J S Parboosingh, S Venkateswaran
Occipital cortical malformation is a rare neurodevelopmental disorder characterized by pachygyria and polymicrogyria of the occipital lobes as well as global developmental delays and seizures. This condition is due to biallelic, loss-of-function mutations in LAMC3 and has been reported in four unrelated families to date. We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation in LAMC3: c...
December 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#4
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29209885/neuroimaging-findings-associated-with-congenital-zika-virus-syndrome-case-series-at-the-time-of-first-epidemic-outbreak-in-pernambuco-state-brazil
#5
Pedro Pires, Patricia Jungmann, Jully Moura Galvão, Adriano Hazin, Luiza Menezes, Ricardo Ximenes, Gabriele Tonni, Edward Araujo Júnior
PURPOSE: This study aimed to describe the prenatal and postnatal neuroimaging and clinical findings in a clinical series following congenital Zika virus syndrome during the first epidemic Zika virus (ZIKV) outbreak in the State of Pernambuco, Brazil. METHODS: We (the authors) conducted a retrospective study of a prospectively collected case series of fetuses and neonates with microcephaly born to mothers with presumed/confirmed congenital ZIKV syndrome. Prenatal ultrasound findings were reviewed to identify potential central nervous system (CNS) abnormalities...
December 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29192239/a-commentary-on-band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#6
EDITORIAL
Rayssa Borges-Medeiros, João Ricardo Mendes de Oliveira
No abstract text is available yet for this article.
November 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29178892/knobloch-syndrome-associated-with-polymicrogyria-and-early-onset-of-retinal-detachment-two-case-reports
#7
Robert J White, Yao Wang, Peter Tang, Sandra R Montezuma
BACKGROUND: Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or later. Aside from occipital skull defects, central nervous system abnormalities are uncommon. CASE PRESENTATIONS: We report on two siblings with KS. The first, a seven month old male, presented with nystagmus and was found to have a serous RD and a tessellated retinal appearance...
November 25, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29109971/%C3%AE-2%C3%AE-1-signaling-drives-cell-death-synaptogenesis-circuit-reorganization-and-gabapentin-mediated-neuroprotection-in-a-model-of-insult-induced-cortical-malformation
#8
Lauren A Lau, Farzad Noubary, Dongqing Wang, Chris G Dulla
Developmental cortical malformations (DCMs) result from pre- and perinatal insults, as well as genetic mutations. Hypoxia, viral infection, and traumatic injury are the most common environmental causes of DCMs, and are associated with the subsyndromes focal polymicrogyria and focal cortical dysplasia (FCD) Type IIId, both of which have a high incidence of epilepsy. Understanding the molecular signals that lead to the formation of a hyperexcitable network in DCMs is critical to devising novel treatment strategies...
September 2017: ENeuro
https://www.readbyqxmd.com/read/29059488/stereoelectroencephalography-and-surgical-outcome-in-polymicrogyria-related-epilepsy-a-multicentric-study
#9
MULTICENTER STUDY
Louis Georges Maillard, Laura Tassi, Fabrice Bartolomei, Hélène Catenoix, François Dubeau, William Szurhaj, Philippe Kahane, Anca Nica, Petr Marusic, Ioana Mindruta, Francine Chassoux, Georgia Ramantani
OBJECTIVE: We aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG-related drug-resistant epilepsy. METHODS: We retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy. RESULTS: Mean age at SEEG or surgery was 28.3 years (range, 2-50)...
November 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#10
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29048727/mutations-of-kif5c-cause-a-neurodevelopmental-disorder-of-infantile-onset-epilepsy-absent-language-and-distinctive-malformations-of-cortical-development
#11
Savannah Michels, Kimberly Foss, Kaylee Park, Katie Golden-Grant, Russell Saneto, Jonathan Lopez, Ghayda M Mirzaa
The clinical diagnosis of malformations of cortical development (MCDs) is often challenging due to the complexity of the brain malformation by neuroimaging, the rarity of individual malformation syndromes, and the rapidly evolving genetic landscape of these disorders facilitated with the use of Next Generation Sequencing (NGS) methods. While the clinical and molecular diagnosis of severe cortical malformations, such as classic lissencephaly, is often straightforward, the diagnosis of more subtle and complex types of cortical malformations, such as pachygyria and polymicrogyria (PMG), can be more challenging due to limited knowledge regarding their genetic etiologies...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28971247/severe-gyration-and-migration-disorder-in-fetofetal-transfusion-syndrome-two-case-reports-and-a-review-of-the-literature-on-the-neurological-outcome-of-children-with-lesions-on-neuroimaging
#12
Rudolf Ascherl, Ina Sorge, Ulrich Thome, Franz Wolfgang Hirsch, Annett Bläser, Wieland Kiess, Andreas Merkenschlager
INTRODUCTION: Fetofetal transfusion syndrome is a dreaded cause of morbidity and mortality in monochorionic pregnancies. CASE REPORTS: We present two pairs of twins one of which we have followed for more than 6 years. The donors suffer from cerebral palsy, orofacial, and motor problems, and both are significantly smaller than their recipient twins. Interestingly, cranial MRI revealed medial frontal lobe polymicrogyria, ventriculomegaly, and decreased thickness in both parietal lobes in both donors...
October 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28969878/epilepsy-in-22q11-2-deletion-syndrome-a-case-series-and-literature-review
#13
Basanagoud Mudigoudar, Sunitha Nune, Stephen Fulton, Ehab Dayyat, James W Wheless
BACKGROUND: The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. METHODS: Medical records of four patients with epilepsy due to 22q11...
August 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28969385/mutations-of-akt3-are-associated-with-a-wide-spectrum-of-developmental-disorders-including-extreme-megalencephaly
#14
Diana Alcantara, Andrew E Timms, Karen Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Cheng, Fiona Stewart, Sarju G Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A Bernstein, Aaron M Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez-Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M Graham, Robert Hevner, William B Dobyns, Mark O'Driscoll, Ghayda M Mirzaa
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been reported in a few individuals with brain malformations, to date. Therefore, our understanding regarding the clinical and molecular spectrum associated with mutations of this critical gene is limited, with no clear genotype-phenotype correlations...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#15
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28951247/genetics-and-mechanisms-leading-to-human-cortical-malformations
#16
REVIEW
Delfina M Romero, Nadia Bahi-Buisson, Fiona Francis
Cerebral cortical development involves a complex series of highly regulated steps to generate the laminated structure of the adult neocortex. Neuronal migration is a key part of this process. We provide here a detailed review of cortical malformations thought to be linked to abnormal neuronal migration. We have focused on providing updated views related to perturbed mechanisms based on the wealth of genetic information currently available, as well as the study of mutant genes in animal models. We discuss mainly type 1 lissencephaly, periventricular heterotopia, type II lissencephaly and polymicrogyria...
October 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28950998/polymicrogyria-and-intractable-epilepsy-in-siblings-with-knobloch-syndrome-and-homozygous-mutation-of-col18a1
#17
Brittany A Charsar, Ethan M Goldberg
No abstract text is available yet for this article.
November 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28941273/hypoglycaemia-represents-a-clinically-significant-manifestation-of-pik3ca-and-ccnd2-associated-segmental-overgrowth
#18
M D Jh, N Hickson, I Banerjee, P G Murray, D Ram, K Metcalfe, J Clayton-Smith, S Douzgou
The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly-capillary malformation syndrome (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus syndrome (MPPH) who developed clinically significant hypoglycaemia...
September 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28899007/the-spectrum-of-structural-and-functional-network-alterations-in-malformations-of-cortical-development
#19
Seok-Jun Hong, Boris C Bernhardt, Ravnoor S Gill, Neda Bernasconi, Andrea Bernasconi
Neuroimaging studies of malformations of cortical development have mainly focused on the characterization of the primary lesional substrate, while whole-brain investigations remain scarce. Our purpose was to assess large-scale brain organization in prevalent cortical malformations. Based on experimental evidence suggesting that distributed effects of focal insults are modulated by stages of brain development, we postulated differential patterns of network anomalies across subtypes of malformations. We studied a cohort of patients with focal cortical dysplasia type II (n = 63), subcortical nodular heterotopia (n = 44), and polymicrogyria (n = 34), and compared them to 82 age- and sex-matched controls...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28884918/adams-oliver-syndrome-type-2-in-association-with-compound-heterozygous-dock6-mutations
#20
Krystal M Jones, Annika Silfvast-Kaiser, David R Leake, Lucia Z Diaz, Moise L Levy
Adams-Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.
September 2017: Pediatric Dermatology
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