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Select item 108381851.

Diverse genetic causes of polymicrogyria with epilepsy

Epilepsy Phenome/Genome Project, Epi4K Consortium

Epilepsia. Author manuscript; available in PMC 2024 Feb 3.

Published in final edited form as: Epilepsia. 2021 Apr; 62(4): 973–983. Published online 2021 Apr 5. doi: 10.1111/epi.16854

Correction in:: Epilepsia. 2021 Jun 27

PMCID:: PMC10838185

Article PDF–546K

Select item 105506502.

Vascular anomaly, lipoma, and polymicrogyria associated with schizencephaly: developmental and diagnostic insights. Illustrative case

Kevin K. Kumar, Angus Toland, Nancy Fischbein, Martha Morrell, Jeremy J. Heit, Donald E. Born, Gary K. Steinberg

J Neurosurg Case Lessons. 2023 May 22; 5(21): CASE2388. Published online 2023 May 22. doi: 10.3171/CASE2388

PMCID:: PMC10550650

Article PDF–1.3M

Select item 104436573.

Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort

Sintia Kolbjer, Daniel A Martín Muñoz, Anne K Örtqvist, Maria Pettersson, Anna Hammarsjö, Britt-Marie Anderlid, Maria Dahlin

Brain Commun. 2023; 5(4): fcad213. Published online 2023 Aug 11. doi: 10.1093/braincomms/fcad213

PMCID:: PMC10443657

Article PDF–821K

Select item 103669524.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay S. Ganesh, Richard S. Smith, Katherine O’Kane, Rebecca C. Yeh, Jack H. Marciano, Samantha Kirkham, Connor J. Kenny, Janet H. T. Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell-Luria, Abbe Lai, Robert Sean Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh

JAMA Neurol. 2023 Sep; 80(9): 980–988. Published online 2023 Jul 24. doi: 10.1001/jamaneurol.2023.2363

PMCID:: PMC10366952

Article

Select item 102561375.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin

J Hum Genet. Author manuscript; available in PMC 2023 Jun 9.

Published in final edited form as: J Hum Genet. 2022 Feb; 67(2): 95–101. Published online 2021 Aug 16. doi: 10.1038/s10038-021-00971-5

PMCID:: PMC10256137

Article PDF–711K

Select item 99777546.

Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings

Cheng‐Yen Kuo, Meng‐Han Tsai, Hsi‐Hsien Lin, Yu‐Chi Wang, Abhishek Kumar Singh, Chin‐Chen Chang, Jainn‐Jim Lin, Po‐Cheng Hung, Kuang‐Lin Lin

Epilepsia Open. 2023 Mar; 8(1): 154–164. Published online 2023 Jan 11. doi: 10.1002/epi4.12685

PMCID:: PMC9977754

Article PDF–22M

Select item 99777537.

COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

Barbora Straka, Markéta Vlčková, Zuzana Libá, Barbora Heřmanovská, Martin Kynčl, Jana Dorňáková, Jakub Táborský, Pavel Kršek, Alena Musilová, Jan Janota, Miroslava Balaščaková

Epilepsia Open. 2023 Mar; 8(1): 211–216. Published online 2022 Dec 18. doi: 10.1002/epi4.12681

PMCID:: PMC9977753

Article PDF–1.9M

Select item 98964728.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Athina Ververi, Sara Zagaglia, Lara Menzies, Julia Baptista, Richard Caswell, Stephanie Baulac, Sian Ellard, Sally Lynch, Genomics England Research Consortium, Thomas S Jacques, Maninder Singh Chawla, Martin Heier, Mari Ann Kulseth, Inger-Lise Mero, Anne Katrine Våtevik, Ichraf Kraoua, Hanene Ben Rhouma, Thouraya Ben Younes, Zouhour Miladi, Ilhem Ben Youssef Turki, Wendy D Jones, Emma Clement, Christin Eltze, Kshitij Mankad, Ashirwad Merve, Jennifer Parker, Bethan Hoskins, Ronit Pressler, Sniya Sudhakar, Catherine DeVile, Tessa Homfray, Marios Kaliakatsos, Ponnudas (Prab) Prabhakar, Robert Robinson, Sara Margrete Bøen Keim, Imen Habibi, Alexandre Reymond, Sanjay M Sisodiya, Jane A Hurst

Hum Mol Genet. 2023 Feb 15; 32(4): 580–594. Published online 2022 Sep 6. doi: 10.1093/hmg/ddac225

PMCID:: PMC9896472

Article PDF–2.1M

Select item 98593069.

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A. Dyment, Kristin D. Kernohan

Genes (Basel) 2023 Jan; 14(1): 108. Published online 2022 Dec 29. doi: 10.3390/genes14010108

PMCID:: PMC9859306

Article PDF–1.5M

Select item 981367310.

A case of clinical worsening after stereo-electroencephalographic-guided radiofrequency thermocoagulation in a patient with polymicrogyria

Lorenzo Ferri, Roberto Mai, Lidia di Vito, Veronica Menghi, Matteo Martinoni, Piergiorgio D'Orio, Laura Licchetta, Lorenzo Muccioli, Carlotta Stipa, Paolo Tinuper, Francesca Bisulli

Epilepsy Behav Rep. 2023; 21: 100579. Published online 2022 Dec 19. doi: 10.1016/j.ebr.2022.100579

PMCID:: PMC9813673

Article PDF–1.4M

Select item 980518111.

Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings

Javier Arredondo Montero, Mónica Bronte Anaut, María Cristina Caballero Martínez, Maria Pilar Fernández Seara, Nerea Martín‐Calvo

Congenit Anom (Kyoto) 2022 Nov; 62(6): 248–253. Published online 2022 Aug 16. doi: 10.1111/cga.12488

PMCID:: PMC9805181

Article PDF–3.0M

Select item 954092912.

The Genetic Landscape of Polymicrogyria

Jesmy James, Mary Iype, Mithran Omana Surendran, Ayyappan Anitha, Sanjeev V. Thomas

Ann Indian Acad Neurol. 2022 Jul-Aug; 25(4): 616–626. Published online 2022 May 5. doi: 10.4103/aian.aian_97_22

PMCID:: PMC9540929

Article PDF–800K

Select item 938697913.

Motor organization of unilateral polymicrogyria associated with ipsilateral brainstem atrophy – a case report

Choong-Hee Roh, Da-Sol Kim, Gi-Wook Kim, Yu Hui Won, Myoung-Hwan Ko, Jeoung-Hwan Seo, Sung-Hee Park

BMC Neurol. 2022; 22: 303. Published online 2022 Aug 18. doi: 10.1186/s12883-022-02795-y

PMCID:: PMC9386979

Article PDF–1.1M

Select item 920575914.

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder

Kalyan Sarma, Manoj K Nayak, Biswamohan Mishra, Shailesh B Gaikwad

Cureus. 2022 May; 14(5): e25123. Published online 2022 May 18. doi: 10.7759/cureus.25123

PMCID:: PMC9205759

Article PDF–435K

Select item 891867215.

Spontaneous Resolution of Congenital Dural Venous Sinus Ectasia Associated With Polymicrogyria—Case Report

Zuzanna Kozłowska, Paulina Komasińska, Barbara Steinborn, Kinga Toboła-Wróbel, Marek Pietryga, Marta Szymankiewicz-Breborowicz, Tomasz Szczapa, Monika Bekiesińska-Figatowska

Front Pediatr. 2022; 10: 822551. Published online 2022 Feb 28. doi: 10.3389/fped.2022.822551