Literature DB >> 27862206

Malformations of cortical development.

Rahul S Desikan1, A James Barkovich1.   

Abstract

Malformations of cortical development (MCDs) compose a diverse range of disorders that are common causes of neurodevelopmental delay and epilepsy. With improved imaging and genetic methodologies, the underlying molecular and pathobiological characteristics of several MCDs have been recently elucidated. In this review, we discuss genetic and molecular alterations that disrupt normal cortical development, with emphasis on recent discoveries, and provide detailed radiological features of the most common and important MCDs. Ann Neurol 2016;80:797-810.
© 2016 American Neurological Association.

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Year:  2016        PMID： 27862206      PMCID： PMC5177533          DOI： 10.1002/ana.24793

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  74 in total

Review 1.  A classification scheme for malformations of cortical development.

Authors:  A J Barkovich; R I Kuzniecky; W B Dobyns; G D Jackson; L E Becker; P Evrard
Journal:  Neuropediatrics       Date:  1996-04       Impact factor: 1.947

Review 2.  How does Reelin control neuronal migration and layer formation in the developing mammalian neocortex?

Authors:  Katsutoshi Sekine; Ken-ichiro Kubo; Kazunori Nakajima
Journal:  Neurosci Res       Date:  2014-06-23       Impact factor: 3.304

3.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

Review 4.  Somatic mutation, genomic variation, and neurological disease.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Christopher A Walsh
Journal:  Science       Date:  2013-07-05       Impact factor: 47.728

5.  Gray matter heterotopia.

Authors:  A J Barkovich; R I Kuzniecky
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

6.  Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Authors:  Joe C Sim; Thomas Scerri; Miriam Fanjul-Fernández; Jessica R Riseley; Greta Gillies; Kate Pope; Hanna van Roozendaal; Julian I Heng; Simone A Mandelstam; George McGillivray; Duncan MacGregor; Lakshminarayanan Kannan; Wirginia Maixner; A Simon Harvey; David J Amor; Martin B Delatycki; Peter B Crino; Melanie Bahlo; Paul J Lockhart; Richard J Leventer
Journal:  Ann Neurol       Date:  2015-12-12       Impact factor: 10.422

7.  Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Authors:  Timothy W Yu; Ganeshwaran H Mochida; David J Tischfield; Sema K Sgaier; Laura Flores-Sarnat; Consolato M Sergi; Meral Topçu; Marie T McDonald; Brenda J Barry; Jillian M Felie; Christine Sunu; William B Dobyns; Rebecca D Folkerth; A James Barkovich; Christopher A Walsh
Journal:  Nat Genet       Date:  2010-10-03       Impact factor: 38.330

8.  Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

Authors:  Farid Radmanesh; Ahmet Okay Caglayan; Jennifer L Silhavy; Cahide Yilmaz; Vincent Cantagrel; Tarek Omar; Başak Rosti; Hande Kaymakcalan; Stacey Gabriel; Mingfeng Li; Nenad Sestan; Kaya Bilguvar; William B Dobyns; Maha S Zaki; Murat Gunel; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2013-03-07       Impact factor: 11.025

9.  β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia.

Authors:  Stephanie Radner; Charles Banos; Galina Bachay; Yong N Li; Dale D Hunter; William J Brunken; Kathleen T Yee
Journal:  Dev Neurobiol       Date:  2012-10-25       Impact factor: 3.964

10.  Fetal brain mTOR signaling activation in tuberous sclerosis complex.

Authors:  Victoria Tsai; Whitney E Parker; Ksenia A Orlova; Marianna Baybis; Anthony W S Chi; Benjamin D Berg; Jacqueline F Birnbaum; Jacqueline Estevez; Kei Okochi; Harvey B Sarnat; Laura Flores-Sarnat; Eleonora Aronica; Peter B Crino
Journal:  Cereb Cortex       Date:  2012-10-18       Impact factor: 5.357
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  30 in total

Review 1.  [Disorders of migration and gyration].

Authors:  I Pogledic
Journal:  Radiologe       Date:  2018-07       Impact factor: 0.635

2.  Malformations of Cerebral Cortex Development: Molecules and Mechanisms.

Authors:  Gordana Juric-Sekhar; Robert F Hevner
Journal:  Annu Rev Pathol       Date:  2019-01-24       Impact factor: 23.472

Review 3.  [Importance of imaging diagnostics and EEG for differential diagnosis of epileptic seizures].

Authors:  C Vollmar; S Noachtar
Journal:  Nervenarzt       Date:  2017-10       Impact factor: 1.214

4.  Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Authors:  Edmund S Cauley; Ahlam Hamed; Inaam N Mohamed; Maha Elseed; Samantha Martinez; Ashraf Yahia; Fatima Abozar; Rayan Abubakr; Mahmoud Koko; Liena Elsayed; Xianhua Piao; Mustafa A Salih; M Chiara Manzini
Journal:  Neurogenetics       Date:  2019-04-13       Impact factor: 2.660

5.  Positive Controls in Adults and Children Support That Very Few, If Any, New Neurons Are Born in the Adult Human Hippocampus.

Authors:  Shawn F Sorrells; Mercedes F Paredes; Zhuangzhi Zhang; Gugene Kang; Oier Pastor-Alonso; Sean Biagiotti; Chloe E Page; Kadellyn Sandoval; Anthony Knox; Andrew Connolly; Eric J Huang; Jose Manuel Garcia-Verdugo; Michael C Oldham; Zhengang Yang; Arturo Alvarez-Buylla
Journal:  J Neurosci       Date:  2021-03-24       Impact factor: 6.167

6.  Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Authors:  Pamela Magini; Daphne J Smits; Laura Vandervore; Rachel Schot; Marta Columbaro; Esmee Kasteleijn; Mees van der Ent; Flavia Palombo; Maarten H Lequin; Marjolein Dremmen; Marie Claire Y de Wit; Mariasavina Severino; Maria Teresa Divizia; Pasquale Striano; Natalia Ordonez-Herrera; Amal Alhashem; Ahmed Al Fares; Malak Al Ghamdi; Arndt Rolfs; Peter Bauer; Jeroen Demmers; Frans W Verheijen; Martina Wilke; Marjon van Slegtenhorst; Peter J van der Spek; Marco Seri; Anna C Jansen; Rolf W Stottmann; Robert B Hufnagel; Robert J Hopkin; Deema Aljeaid; Wojciech Wiszniewski; Pawel Gawlinski; Milena Laure-Kamionowska; Fowzan S Alkuraya; Hanah Akleh; Valentina Stanley; Damir Musaev; Joseph G Gleeson; Maha S Zaki; Nicola Brunetti-Pierri; Gerarda Cappuccio; Bella Davidov; Lina Basel-Salmon; Lily Bazak; Noa Ruhrman Shahar; Aida Bertoli-Avella; Ghayda M Mirzaa; William B Dobyns; Tommaso Pippucci; Maarten Fornerod; Grazia M S Mancini
Journal:  Am J Hum Genet       Date:  2019-09-05       Impact factor: 11.025

7.  DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

Authors:  Philip H Iffland; Marianna Baybis; Allan E Barnes; Richard J Leventer; Paul J Lockhart; Peter B Crino
Journal:  Neurobiol Dis       Date:  2018-02-24       Impact factor: 5.996

8.  Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.

Authors:  Julia Wallmeier; Diana Bracht; Hessa S Alsaif; Gerard W Dougherty; Heike Olbrich; Sandra Cindric; Mark Dzietko; Christoph Heyer; Norbert Teig; Charlotte Thiels; Eissa Faqeih; Aqeela Al-Hashim; Sameena Khan; Ibrahim Mogarri; Mohammed Almannai; Wadha Al Otaibi; Fowzan S Alkuraya; Cordula Koerner-Rettberg; Heymut Omran
Journal:  Am J Hum Genet       Date:  2021-06-01       Impact factor: 11.025

Review 9.  Mechanisms of radial glia progenitor cell lineage progression.

Authors:  Robert Beattie; Simon Hippenmeyer
Journal:  FEBS Lett       Date:  2017-11-22       Impact factor: 4.124

Review 10.  Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Authors:  Annalisa Mencarelli; Paolo Prontera; Gabriela Stangoni; Elisabetta Mencaroni; Nicola Principi; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2017-10-29       Impact factor: 5.923
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