Literature DB >> 25934463

Malformations of cortical development and epilepsy.

A James Barkovich1, William B Dobyns2, Renzo Guerrini3.   

Abstract

Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.
Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2015        PMID: 25934463      PMCID: PMC4448581          DOI: 10.1101/cshperspect.a022392

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   6.915


  185 in total

1.  MRI analysis of sulcation morphology in polymicrogyria.

Authors:  Anthony James Barkovich
Journal:  Epilepsia       Date:  2010-02       Impact factor: 5.864

2.  Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI.

Authors:  R Guerrini; C Dravet; C Raybaud; J Roger; M Bureau; A Battaglia; M O Livet; G Colicchio; O Robain
Journal:  Dev Med Child Neurol       Date:  1992-08       Impact factor: 5.449

Review 3.  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

4.  Quantification and discrimination of abnormal sulcal patterns in polymicrogyria.

Authors:  Kiho Im; Rudolph Pienaar; Michael J Paldino; Nadine Gaab; Albert M Galaburda; P Ellen Grant
Journal:  Cereb Cortex       Date:  2012-09-17       Impact factor: 5.357

5.  Autosomal recessive cerebellar hypoplasia in the Hutterite population.

Authors:  Hannah C Glass; Kym M Boycott; Coleen Adams; Karen Barlow; James N Scott; Albert E Chudley; T Mary Fujiwara; Kenneth Morgan; Elaine Wirrell; D Ross McLeod
Journal:  Dev Med Child Neurol       Date:  2005-10       Impact factor: 5.449

6.  Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics.

Authors:  A J Barkovich; S H Chuang
Journal:  AJNR Am J Neuroradiol       Date:  1990-05       Impact factor: 3.825

7.  Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Authors:  Kyle C Kurek; Valerie L Luks; Ugur M Ayturk; Ahmad I Alomari; Steven J Fishman; Samantha A Spencer; John B Mulliken; Margot E Bowen; Guilherme L Yamamoto; Harry P W Kozakewich; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2012-05-31       Impact factor: 11.025

8.  Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Authors:  Petter Strømme; Marie E Mangelsdorf; Ingrid E Scheffer; Jozef Gécz
Journal:  Brain Dev       Date:  2002-08       Impact factor: 1.961

9.  Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study.

Authors:  R Kuzniecky; F Andermann; R Guerrini
Journal:  Lancet       Date:  1993-03-06       Impact factor: 79.321

10.  Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Authors:  Jeroen van Reeuwijk; Prabhjit K Grewal; Mustafa A M Salih; Daniel Beltrán-Valero de Bernabé; Jenny M McLaughlan; Caroline B Michielse; Ralf Herrmann; Jane E Hewitt; Alice Steinbrecher; Mohamed Z Seidahmed; Mohamed M Shaheed; Abdullah Abomelha; Han G Brunner; Hans van Bokhoven; Thomas Voit
Journal:  Hum Genet       Date:  2007-04-14       Impact factor: 4.132

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  44 in total

Review 1.  Developmental origins of cortical hyperexcitability in Huntington's disease: Review and new observations.

Authors:  Carlos Cepeda; Katerina D Oikonomou; Damian Cummings; Joshua Barry; Vannah-Wila Yazon; Dickson T Chen; Janelle Asai; Christopher K Williams; Harry V Vinters
Journal:  J Neurosci Res       Date:  2019-07-28       Impact factor: 4.164

2.  The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Authors:  Filippo Arrigoni; Romina Romaniello; Denis Peruzzo; Andrea Poretti; Maria Teresa Bassi; Carlo Pierpaoli; Enza Maria Valente; Sara Nuovo; Eugen Boltshauser; Thierry André Gerard Marie Huisman; Fabio Triulzi; Renato Borgatti
Journal:  Eur Radiol       Date:  2018-07-31       Impact factor: 5.315

3.  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

4.  Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Authors:  Anne T Berg; Jason Coryell; Russell P Saneto; Zachary M Grinspan; John J Alexander; Mariana Kekis; Joseph E Sullivan; Elaine C Wirrell; Renée A Shellhaas; John R Mytinger; William D Gaillard; Eric H Kossoff; Ignacio Valencia; Kelly G Knupp; Courtney Wusthoff; Cynthia Keator; William B Dobyns; Nicole Ryan; Tobias Loddenkemper; Catherine J Chu; Edward J Novotny; Sookyong Koh
Journal:  JAMA Pediatr       Date:  2017-09-01       Impact factor: 16.193

5.  A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.

Authors:  Christopher J Yuskaitis; Brandon M Jones; Rachel L Wolfson; Chloe E Super; Sameer C Dhamne; Alexander Rotenberg; David M Sabatini; Mustafa Sahin; Annapurna Poduri
Journal:  Neurobiol Dis       Date:  2017-12-20       Impact factor: 5.996

6.  BRAFV600E expression in neural progenitors results in a hyperexcitable phenotype in neocortical pyramidal neurons.

Authors:  Roman U Goz; Gülcan Akgül; Joseph J LoTurco
Journal:  J Neurophysiol       Date:  2020-05-13       Impact factor: 2.714

7.  The Logic of Developing Neocortical Circuits in Health and Disease.

Authors:  Ileana L Hanganu-Opatz; Simon J B Butt; Simon Hippenmeyer; Natalia V De Marco García; Jessica A Cardin; Bradley Voytek; Alysson R Muotri
Journal:  J Neurosci       Date:  2021-01-11       Impact factor: 6.167

8.  De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Authors:  Konrad Platzer; Heinrich Sticht; Stacey L Edwards; William Allen; Kaitlin M Angione; Maria T Bonati; Campbell Brasington; Megan T Cho; Laurie A Demmer; Tzipora Falik-Zaccai; Candace N Gamble; Yorck Hellenbroich; Maria Iascone; Fernando Kok; Sonal Mahida; Hanna Mandel; Thorsten Marquardt; Kirsty McWalter; Bianca Panis; Alexander Pepler; Hailey Pinz; Luiza Ramos; Deepali N Shinde; Constance Smith-Hicks; Alexander P A Stegmann; Petra Stöbe; Constance T R M Stumpel; Carolyn Wilson; Johannes R Lemke; Nataliya Di Donato; Kenneth G Miller; Rami Jamra
Journal:  Am J Hum Genet       Date:  2019-01-03       Impact factor: 11.025

9.  GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Authors:  Konrad Platzer; Hongjie Yuan; Hannah Schütz; Alexander Winschel; Wenjuan Chen; Chun Hu; Hirofumi Kusumoto; Henrike O Heyne; Katherine L Helbig; Sha Tang; Marcia C Willing; Brad T Tinkle; Darius J Adams; Christel Depienne; Boris Keren; Cyril Mignot; Eirik Frengen; Petter Strømme; Saskia Biskup; Dennis Döcker; Tim M Strom; Heather C Mefford; Candace T Myers; Alison M Muir; Amy LaCroix; Lynette Sadleir; Ingrid E Scheffer; Eva Brilstra; Mieke M van Haelst; Jasper J van der Smagt; Levinus A Bok; Rikke S Møller; Uffe B Jensen; John J Millichap; Anne T Berg; Ethan M Goldberg; Isabelle De Bie; Stephanie Fox; Philippe Major; Julie R Jones; Elaine H Zackai; Rami Abou Jamra; Arndt Rolfs; Richard J Leventer; John A Lawson; Tony Roscioli; Floor E Jansen; Emmanuelle Ranza; Christian M Korff; Anna-Elina Lehesjoki; Carolina Courage; Tarja Linnankivi; Douglas R Smith; Christine Stanley; Mark Mintz; Dianalee McKnight; Amy Decker; Wen-Hann Tan; Mark A Tarnopolsky; Lauren I Brady; Markus Wolff; Lutz Dondit; Helio F Pedro; Sarah E Parisotto; Kelly L Jones; Anup D Patel; David N Franz; Rena Vanzo; Elysa Marco; Judith D Ranells; Nataliya Di Donato; William B Dobyns; Bodo Laube; Stephen F Traynelis; Johannes R Lemke
Journal:  J Med Genet       Date:  2017-04-04       Impact factor: 6.318

Review 10.  Role of conventional magnetic resonance imaging in the screening of epilepsy with structural abnormalities: a pictorial essay.

Authors:  Xu Zhao; Zhiqiang Zhou; Wenzhen Zhu; Hongbing Xiang
Journal:  Am J Nucl Med Mol Imaging       Date:  2017-07-15
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