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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
#1
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/stereo-electroencephalography-and-surgical-outcome-in-polymicrogyria-related-epilepsy-a-multi-centric-study
#2
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 PMG types and the associated epileptogenic zone (EZ), as defined by stereo-electroencephalography (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). PMG was bilateral in 9 (16%) patients and unilateral in 49, including 17 (29%) unilobar, 12 (21%) multilobar, 15 (26%) perisylvian, and only 5 (9%) hemispheric...
October 23, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28828134/prenatal-and-postnatal-evaluation-of-polymicrogyria-with-band-heterotopia
#14
Usha D Nagaraj, Robert Hopkin, Mark Schapiro, Beth Kline-Fath
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings...
September 2017: Radiology case reports
https://www.readbyqxmd.com/read/28782324/congenital-perisylvian-syndrome-presenting-as-post-partum-seizures-with-preeclampsia
#15
Arun Agarwal, Manju Goyal, Jainendra Jain, Aakanksha Agarwal
Whether preceded by preeclampsia, or occuring without antecedent warning symptoms, eclamptic seizures usually occur in the antepartum period between 20 and 40 weeks of gestation or within a few hours to 2 days postpartum. We report the case of a patient with pre-eclampsia who developed seizures after more than 2 days of delivery. In view of late onset postpartum seizures and non-responsiveness to magnesium sulphate, she was further evaluated and diagnosed to have congenital perisylvian syndrome(CPS). In CPS, polymicrogyric cortex is distributed in variable extensions around the sylvian fissure i...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#16
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28670168/value-of-repeat-brain-mri-in-children-with-focal-epilepsy-and-negative-findings-on-initial-mri
#17
Tae Yeon Jeon, Ji Hye Kim, Jeehun Lee, So-Young Yoo, Sook Min Hwang, Munhyang Lee
OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities...
July 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#18
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28629604/novel-fkrp-mutations-in-a-japanese-mdc1c-sibship-clinically-diagnosed-with-fukuyama-congenital-muscular-dystrophy
#19
Mieko Yoshioka, Kazuhiro Kobayashi, Tatsushi Toda
INTRODUCTION: Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries. PATIENTS: Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L...
June 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#20
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
August 2017: European Journal of Medical Genetics
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