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JOURNAL ARTICLE
Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie, Madeline Couse, Taila Hartley, Wendy Mears, Francois P Bernier, Albert E Chudley, Patrick Frosk, Sarah M Nikkel, A Micheil Innes, Julie Lauzon, Maryann Thomas, Andrea Guerin, Christine M Armour, Rosanna Weksberg, James N Scott, Debra Watkins, Shirley Harvey, Cheryl Cytrynbaum, Kristin D Kernohan, Kym M Boycott
Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including CLOVES syndrome, dysplastic megalencephaly, hemimegalencephaly, focal cortical dysplasia, Klippel-Trenaunay syndrome, CLAPO syndrome, fibroadipose hyperplasia or overgrowth, hemihyperplasia multiple lipomatosis, and megalencephaly capillary malformation-polymicrogyria (MCAP) syndrome...
November 10, 2023: American Journal of Medical Genetics. Part A
#22
JOURNAL ARTICLE
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Eduardo Calpena, Pamela J Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E Dunford, Renzo Guerrini, Adrian L Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J L Knight, Alexandra Y Kreins, Erika M Kvikstad, Craig B Langman, Tracy Lester, Kate E Lines, Simon R Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y Patel, Melissa M Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V Thakker, Stephen R F Twigg, Holm H Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H Schuh, Usha Kini, Andrew O M Wilkie, Niko Popitsch, Jenny C Taylor
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays...
November 9, 2023: Genome Medicine
#23
JOURNAL ARTICLE
Ali Mir, Raidah AlBaradie, Shahid Bashir
Malformations of cortical development such as polymicrogyria can cause medically refractory epilepsy. Epilepsy surgery (hemispherotomy) can be a good treatment option. In recent years, navigated transcranial magnetic stimulation (nTMS), a noninvasive brain mapping technique, has been used to localize the eloquent cortex for presurgical evaluation of patients with epilepsy. In the present case study, neurophysiological markers of the primary motor cortex (M1), including resting motor threshold (rMT), motor evoked potentials (MEPs), and silent period (SP), were assessed in both hands of a right-handed 10-year-old girl with a history of epilepsy and right hemispheric polymicrogyria...
November 9, 2023: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#24
JOURNAL ARTICLE
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Alejandro Parra, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Esteban A San-Martín, Cristina Silván, Fernando Santos-Simarro, Julián Nevado, Jair Tenorio-Castano, Pablo Lapunzina
DDX3X is a multifunctional ATP-dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle control, innate immunity, apoptosis and tumorigenesis. Variants in DDX3X have been associated with a developmental disorder named intellectual developmental disorder, X-linked syndromic, Snijders Blok type (MRXSSB, MIM #300958) or DDX3X neurodevelopmental disorder (DDX3X-NDD). DDX3X-NDD is mainly characterized by intellectual disability, brain abnormalities, hypotonia and behavioral problems...
October 30, 2023: Clinical Genetics
#25
JOURNAL ARTICLE
Parith Wongkittichote, Cassandra Pantano, Emily Bogush, Cesar Augusto P Alves, Xinying Hong, Miao He, Matthew M Demczko, Rebecca D Ganetzky, Amy Goldstein
Iron‑sulfur clusters (FeS) are one of the most primitive and ubiquitous cofactors used by various enzymes in multiple pathways. Biosynthesis of FeS is a complex multi-step process that is tightly regulated and requires multiple machineries. IBA57, along with ISCA1 and ISCA2, play a role in maturation of [4Fe-4S] clusters which are required for multiple mitochondrial enzymes including mitochondrial Complex I, Complex II, lipoic acid synthase, and aconitase. Pathogenic variants in IBA57 have been associated with multiple mitochondrial dysfunctions syndrome 3 (MMDS3) characterized by infantile to early childhood-onset psychomotor regression, optic atrophy and nonspecific dysmorphism...
October 20, 2023: Molecular Genetics and Metabolism
#26
JOURNAL ARTICLE
Eric Krochmalnek, Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem, Gyan Prakash, Sung-Hoon Kim, Tristan Brunette-Clement, Ghadd Alhajaj, Lina Mougharbel, Elena Bruneau, Kenneth A Myers, Francois Dubeau, Jason Karamchandani, Jean-Pierre Farmer, Jeffrey Atkinson, Jeffrey Hall, Chantal Chantal Poulin, Bernard Rosenblatt, Joel Lafond-Lapalme, Alexander Weil, Catherine Fallet-Bianco, Steffen Albrecht, Nahum Sonenberg, Jean-Baptiste Riviere, Roy W Dudley, Myriam Srour
BACKGROUND AND OBJECTIVES: Somatic and germline pathogenic variants in genes of the mammalian target of rapamycin (mTOR) signaling pathway are a common mechanism underlying a subset of focal malformations of cortical development (FMCDs) referred to as mTORopathies, which include focal cortical dysplasia (FCD) type II, subtypes of polymicrogyria, and hemimegalencephaly. Our objective is to screen resected FMCD specimens with mTORopathy features on histology for causal somatic variants in mTOR pathway genes, describe novel pathogenic variants, and examine the variant distribution in relation to neuroimaging, histopathologic classification, and clinical outcomes...
December 2023: Neurology. Genetics
#27
Shogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, Noriko Sumitomo, Shota Yoneno, Mitsuko Nakashima, Hirotomo Saitsu
ATP1A2 encodes a subunit of sodium/potassium-transporting adenosine triphosphatase (Na+ /K+ -ATPase). Heterozygous pathogenic variants of ATP1A2 cause familial hemiplegic migraine, alternating hemiplegia of childhood, and developmental and epileptic encephalopathy. Biallelic loss-of-function variants in ATP1A2 lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, resulting in fetal death. Here, we describe a patient with compound heterozygous ATP1A2 variants consisting of missense and nonsense variants...
October 23, 2023: American Journal of Medical Genetics. Part A
#28
JOURNAL ARTICLE
Marc R Del Bigio, Sherry Krawitz, Namita Sinha
To follow our 2016 study of chronic traumatic encephalopathy neuropathologic change (CTE-NC) in our forensic autopsy service, we prospectively screened all cases with clinical histories of multiple concussions, persistent post-head injury symptoms, or ≥3 hospital investigations for head injuries from 2016 to 2022 inclusive using hyperphosphorylated tau (p-tau) immunostaining. The cases had routine brain sampling plus 4-6 additional lateral hemisphere samples. When "pathognomonic" CTE-NC lesions were identified, additional p-tau immunostaining was done for CTE-NC staging...
October 16, 2023: Journal of Neuropathology and Experimental Neurology
#29
JOURNAL ARTICLE
Arnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, Naïg Gueguen, Laurence Perrin, Valérie Desquiret-Dumas, Fabien Guimiot, Pierre-Hadrien Becker, Jonathan Levy, Pascal Reynier, Pauline Gaignard
Pathogenic variants in MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with possible involvement of the central nervous system. Here, we present a case of severe antenatal encephalopathy with lissencephaly, polymicrogyria and cerebellar atrophy. Whole Genome Analysis revealed a homozygous deletion c.1717-274_1734 del (NM_014874.4) in MFN2 gene, leading to exon 16 skipping and in-frame loss of 50 amino acids (p.Gln574_Val624del), removing the proline rich domain and the transmembrane domain 1 (TM1)...
October 7, 2023: Brain
#30
Naohiro Yamamoto, Ichiro Kuki, Kazuki Shimizu, Ayako Ohgitani, Naoki Yamada, Mitsuhiro Fujino, Sayaka Yoshida
BACKGROUND: Some patients with ATP1A3 variant-associated polymicrogyria have recurrent transient heart failure. However, effective treatment for the transient cardiac condition remains to be elucidated. CASE REPORT: The patient started experiencing focal motor onset seizures in 12 h after birth, revealing bilateral diffuse polymicrogyria. The patient also experienced transient bradycardia (sinus bradycardia) attacks from 15 days old. Echocardiography revealed a reduced ejection fraction; however, no obvious electrocorticogram or electroencephalogram abnormalities were observed during the attacks...
January 2024: Brain & Development
#31
JOURNAL ARTICLE
Eva Karner, Gregor J Kasprian, Alex Farr, Elisabeth Krampl-Bettelheim
This case report presents a patient with a monochorionic twin pregnancy, development of twin-twin transfusion-syndrome (TTTS) and polymicrogyria (PMG) of one fetus. Due to TTTS grade 3, fetoscopic laser ablation was performed at gestational week 16+1. Sonographic follow-up showed a cortical malformation of the right parietal lobe in the former donor, which was identified as PMG by MRI scans. We describe the course of the pregnancy, as well as the clinical, especially neurological, development of the child over 3 years...
September 22, 2023: BMJ Case Reports
#32
JOURNAL ARTICLE
Amir Garakani
Patients may present with manic symptoms in medical settings such as emergency rooms and on inpatient medical floors, leading to psychiatric consultation to try to determine the etiology of the symptoms. It is crucial to clarify whether the mania is secondary to a medical illness or whether the patient's symptoms are from a primary bipolar disorder. In this issue, we publish 2 case reports of patients presenting with manic symptoms in medical settings. The first case involves polymicrogyria in the frontal lobe of the brain as a cause of secondary mania...
September 1, 2023: Journal of Psychiatric Practice
#33
JOURNAL ARTICLE
Jacobo Chacón-González, Miguel Restrepo-Martínez, Álvaro Moreno-Avellán, Jesús Ramírez-Bermúdez
BACKGROUND: Secondary mania refers to a manic episode that arises during a medical illness other than bipolar disorder or in response to a drug or medication. As the psychopathological features of secondary mania resemble those of mania due to bipolar disorder, misdiagnosis is frequent. PURPOSE AND BASIC PROCEDURES: We present the case of a 20-year-old woman who developed a manic episode with psychotic symptoms, in whom polymicrogyria, a malformation of the cortical development with abnormal electroencephalographic activity, was documented...
September 1, 2023: Journal of Psychiatric Practice
#34
JOURNAL ARTICLE
D Paladini, G Biancotto, F D Sala, M Severino, A Rossi
No abstract text is available yet for this article.
September 6, 2023: Ultrasound in Obstetrics & Gynecology
#35
JOURNAL ARTICLE
Mathies Rondagh, Sophie G Groene, Linda S de Vries, Enrico Lopriore, Sylke J Steggerda
No abstract text is available yet for this article.
November 21, 2023: Neurology
#36
JOURNAL ARTICLE
Felix Faas, Amalie Nørskov, Peter J Holst, Anne-Marie Andersson, Katrine Qvortrup, Signe Mathiasen, Mette M Rosenkilde
Adhesion G protein-coupled receptors (aGPCRs) constitute the second largest subclass of the GPCR superfamily. Although canonical GPCRs are explored pharmacologically as drug targets, no clinically approved drugs target the aGPCR family so far. The aGPCR GPR56/ADGRG1 stands out as an especially promising target, given its direct link to the monogenetic disease bilateral frontoparietal polymicrogyria and implications in cancers. Key to understanding GPCR pharmacology has been mapping out intracellular signaling activity...
August 24, 2023: Basic & Clinical Pharmacology & Toxicology
#37
JOURNAL ARTICLE
Emily Shelkowitz, Nicholas V Stence, Ilana Neuberger, Kristen L Park, Margarita S Saenz, Emily Pao, Nora Oyama, Seth D Friedman, Dennis W W Shaw, Ghayda M Mirzaa
BACKGROUND: Inactivating mutations in PTEN are among the most common causes of megalencephaly. Activating mutations in other nodes of the PI3K/AKT/MTOR signaling pathway are recognized as a frequent cause of cortical brain malformations. Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited. METHODS: Retrospective neuroimaging analysis and detailed chart review were conducted on 20 participants identified with pathogenic or likely pathogenic mutations in PTEN and a cortical brain malformation present on brain magnetic resonance imaging...
October 2023: Pediatric Neurology
#38
JOURNAL ARTICLE
Sintia Kolbjer, Daniel A Martín Muñoz, Anne K Örtqvist, Maria Pettersson, Anna Hammarsjö, Britt-Marie Anderlid, Maria Dahlin
Polymicrogyria is estimated to be one of the most common brain malformations, accounting for ∼16% of malformations of cortical development. However, the prevalence and incidence of polymicrogyria is unknown. Our aim was to estimate the prevalence, incidence rate, neuroimaging diversity, aetiology, and clinical phenotype of polymicrogyria in a population-based paediatric cohort. We performed a systematic search of MRI scans at neuroradiology department databases in Stockholm using the keyword polymicrogyria...
2023: Brain communications
#39
REVIEW
Juliet Edey, Payam Soleimani-Nouri, Amelia Dawson-Kavanagh, Muhamad Saad Imran Azeem, Vasso Episkopou
Cortical development depends on neuronal migration of both excitatory and inhibitory interneurons. Neuronal migration disorders (NMDs) are conditions characterised by anatomical cortical defects leading to varying degrees of neurocognitive impairment, developmental delay and seizures. Refractory epilepsy affects 15 million people worldwide, and it is thought that cortical developmental disorders are responsible for 25% of childhood cases. However, little is known about the epidemiology of these disorders, nor are their aetiologies fully understood, though many are associated with sporadic genetic mutations...
August 13, 2023: International Journal of Developmental Neuroscience
#40
S Cabet, A Putoux, G Lesca, A Lesage, M Massoud, L Guibaud
Microcephaly with simplified gyral pattern (MSG) is an intrinsic genetic CNS disorder characterized by microcephaly and reduced number of gyri and shallow sulci associated with normal cortical thickness and neuroanatomical architecture related to a reduced number of neuronal progenitors in the germinal matrix. We report the first prenatal series of MSG to define the prenatal imaging pattern which should suggest the diagnosis and guide prenatal counselling when facing fetal microcephaly. We launched a monocentric retrospective study including sonographic and MR features as well as genetic and neuropathologic/postnatal data in fetuses with MSG...
August 7, 2023: Ultrasound in Obstetrics & Gynecology
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