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https://www.readbyqxmd.com/read/29738522/de-novo-and-inherited-private-variants-in-map1b-in-periventricular-nodular-heterotopia
#1
Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and identified 219 de novo variants. Although no novel genes were implicated in this initial analysis, PVNH cases were found overall to have a significant excess of nonsynonymous de novo variants in intolerant genes (p = 3.27x10-7), suggesting a role for rare new alleles in genes yet to be associated with the condition...
May 8, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29707406/three-mutations-in-the-bilateral-frontoparietal-polymicrogyria-gene-gpr56-in-pakistani-intellectual-disability-families
#2
Humaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, Kayla Vleuten, Farooq Naeem, Tanveer Nasr, Muhammad Jawad Hassan, John B Vincent, Muhammad Ayub, Muhammad Arshad Rafiq
Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caused by mutations in the G protein-coupled receptor 56 ( GPR56 ) gene. Twenty-eight mutations in 40 different families have been reported in the literature. The clinical and neuroimaging phenotype is consistent in these cases. The BFPP cortex consists of numerous small gyral cells, with scalloping of the cortical-white matter junction...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29688489/protective-role-of-the-lipid-phosphatase-fig4-in-the-adult-nervous-system
#3
Yevgeniya A Mironova, Jing-Ping Lin, Ashley Kalinski, Lucas Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger
The signaling lipid phosphatidylinositol 3,5-bisphosphate, PI(3,5)P2, functions in vesicular trafficking through the endo-lysosomal compartment. Cellular levels of PI(3,5)P2 are regulated by an enzyme complex comprised of the kinase PIKFYVE, the phosphatase FIG4, and the scaffold protein VAC14. Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome. Constitutive Fig4-/- mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality...
April 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29681488/brain-magnetic-resonance-imaging-findings-of-congenital-cytomegalovirus-infection-as-a-prognostic-factor-for-neurological-outcome
#4
Minsun Kwak, Mi-Sun Yum, Hye-Ryun Yeh, Hyun-Jin Kim, Tae-Sung Ko
BACKGROUND: The aim of this study is to predict the neurological outcomes of patients with congenital cytomegalovirus infection by analysis of magnetic resonance images of the brain. METHODS: From June 2007 to June 2016, 31 patients were diagnosed with symptomatic congenital cytomegalovirus infection at Asan Medical Center. The medical records and magnetic resonance imaging (MRI) findings of these patients were reviewed, and the relationships between MRI findings and neurological outcomes were analyzed...
March 21, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#5
John C Benson, David Nascene, Charles Truwit, Alexander M McKinney
PURPOSE: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. METHODS: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI)...
April 16, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29622280/effectiveness-of-total-corpus-callosotomy-for-diffuse-bilateral-polymicrogyria-report-of-three-pediatric-cases
#6
Shimpei Baba, Tohru Okanishi, Mitsuyo Nishimura, Sotaro Kanai, Shinji Itamura, Takayuki Suzuki, Yosuke Masuda, Hideo Enoki, Ayataka Fujimoto
PURPOSE: Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective epileptogenic cortices, has not been established in DBP. Because CC might be effective against DBP-related epilepsy, we conducted total CC in three pediatric DBP cases...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29601953/sulcal-pits-and-patterns-in-developing-human-brains
#7
REVIEW
Kiho Im, P Ellen Grant
Spatial 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 anatomical features closely related to human brain function, suggesting additional insights concerning the anatomical and functional development of the human brain...
March 27, 2018: NeuroImage
https://www.readbyqxmd.com/read/29591721/-twig-like-cerebral-vessels-are-not-pathognomonic-for-acta-a2-mutations-a-case-report
#8
Krishnan Nagarajan, Elango Swamiappan, Sathiaprabhu Anbazhagan, Ashwin Dalal, Subathra Adithan, Timo Krings
ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries ("twig-like" pattern), stenosis/occlusions, proximal dilatation, and absent "moyamoya" type of collaterals. We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels...
January 1, 2018: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29564536/long-term-neurocognitive-improvement-after-late-right-hemispherectomy-case-report-and-review-of-the-literature
#9
Alessandra Moletto, Irene Bagnasco, Patrizia Dassi, Piernanda Vigliano
OBJECTIVE: To study the long-term neurocognitive changes of a right-handed girl with intractable epilepsy after late right hemispherectomy and compare them with data in the literature. METHOD: The girl was affected by an epileptic encephalopathy associated with right fronto-temporo-parietal polymicrogyria; she was submitted to right hemispherectomy at the age of 5 and examined with cognitive and neuropsychological tests at the age of 17 years. The girl took advantage of neurocognitive rehabilitation for several years; she is currently seizure-free and off therapy...
March 21, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29493003/phosphatidylinositol-4-5-bisphosphate-3-kinase-catalytic-subunit-alpha-pik3ca-related-overgrowth-spectrum-a-brief-report
#10
Pieter Denorme, Marie-Anne Morren, Silke Hollants, Marijke Spaepen, Kate Suaer, Nele Zutterman, Veerle Labarque, Eric Legius, Hilde Brems
A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
May 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29473152/white-matter-spongiosis-with-vigabatrin-therapy-for-infantile-spasms
#11
Phillip L Pearl, Annapurna Poduri, Sanjay P Prabhu, Chellamani Harini, Richard Goldstein, Richard M Atkinson, Dawna Armstrong, Hannah Kinney
The histopathology, "white matter spongiosis," defined by electron microscopy (EM) as "intramyelinic edema," has been associated with vigabatrin therapy in various animal models, but its role or significance in clinical studies is unknown. We conducted a neuropathological examination on a 27-month-old boy with bilateral polymicrogyria and epilepsy after sudden unexpected death in epilepsy (SUDEP). The patient was initiated on vigabatrin at 4 months of age, which controlled infantile spasms, and was continued as maintenance therapy...
April 2018: Epilepsia
https://www.readbyqxmd.com/read/29466837/mutations-in-scn3a-cause-early-infantile-epileptic-encephalopathy
#12
Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D DeBrosse, A Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L Helbig, Xiaohong Zhang, Ethan M Goldberg
OBJECTIVE: Voltage-gated sodium (Na+ ) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β1 , are established causes of genetic epilepsies. SCN3A, encoding Nav1.3, is known to be highly expressed in brain, but has not previously been linked to early infantile epileptic encephalopathy...
April 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29441111/commentary-on-megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#13
COMMENT
Sung-Min Park, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
No abstract text is available yet for this article.
January 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29414506/scimitar-like-ossification-of-patellae-led-to-diagnosis-of-zellweger-syndrome-in-newborn-a-case-report
#14
Anilawan Smitthimedhin, Hansel J Otero
Zellweger syndrome is the most severe form of a group of autosomal recessive disorders with defective peroxisomes. We report a case of Zellweger syndrome in a newborn baby, which was first suspected by the presence of scimitar-like patella seen on skeletal survey. The subsequent brain MRI showed germinolytic cysts and polymicrogyria, which furthered the suspicion. Laboratory and genetic results confirmed the diagnosis. To date, there are a limited number of case reports of this rare disease. We emphasize skeletal findings that can lead to targeted genetic and laboratory testing and hence earlier diagnosis...
February 1, 2018: Clinical Imaging
https://www.readbyqxmd.com/read/29411637/ictal-headache-insights-from-two-cases
#15
Arens Taga, Irene Florindo
Background We report the first literature description of ictal epileptic headaches closely mimicking glossopharyngeal neuralgia and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing. Case 1 A 37-year-old man complained of short-lasting, electric-shock like headache, confined to the pharynx. During the episodes, he could not speak because he felt "words blocked at the throat". An EEG recorded epileptic discharges concomitant with headache; a brain MRI disclosed frontal polymicrogyria...
January 1, 2018: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29378768/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome
#16
Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, Claudio Zucca, Cristina Maghini, Maria Grazia D'Angelo, Silvana Beri, Roberto Giorda, Sara Bertuzzo, Massimo Delledonne, Luciano Xumerle, Marzia Rossato, Orsetta Zuffardi, Maria Clara Bonaglia
INTRODUCTION: Phelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child with severe global neurodevelopmental delay (NDD) compatible with her distal 22q13 deletion, complicated by bilateral perisylvian polymicrogyria (BPP) and urticarial rashes, unreported in PMS...
April 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29365063/de-novo-mutations-in-grin1-cause-extensive-bilateral-polymicrogyria
#17
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epilepsy...
January 22, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29356416/a-neuropathological-study-of-novel-rttn-gene-mutations-causing-a-familial-microcephaly-with-simplified-gyral-pattern
#18
Suzanne Chartier, Caroline Alby, Lucile Boutaud, Sophie Thomas, Nadia Elkhartoufi, Jelena Martinovic, Josseline Kaplan, Alexandra Benachi, Didier Lacombe, Pascale Sonigo, Séverine Drunat, Michel Vekemans, Joël Agenor, Férechté Encha Razavi, Tania Attie-Bitach
BACKGROUND: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed...
April 17, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29298944/neuronal-migration-disorders
#19
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
#20
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
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