Scientific Update

Please find below scientific udpates which includes Periventricular Nodular Heterotopia, Grey Matter Heterotopia and Subcortical Band Heterotopia among other malformations of cortical development. We will also include here updates from our collaborators and researchers.

March 2024

Grey matter heterotopia subtypes show specific morpho-electric signatures and network dynamics

Jean-Christophe Vermoyal, Delphine Hardy, Lucas Goirand-Lopez, Antonin Vinck, Lucas Silvagnoli, Aurélien Fortoul, Fiona Francis, Silvia Cappello, Ingrid Bureau, Alfonso Represa, Carlos Cardoso, Françoise Watrin, Thomas Marissal, Jean-Bernard Manent, Grey matter heterotopia subtypes show specific morpho-electric signatures and network dynamics, Brain, Volume 147, Issue 3, March 2024, Pages 996–1010, https://doi.org/10.1093/brain/awad318
 

April 2023

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
Paliotti, K., Dassi, C., Berrahmoune, S. et al. The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia. J Neurol (2023). https://doi.org/10.1007/s00415-023-11724-z

February 2023

Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats

Delphine Hardy, Emmanuelle Buhler, Dmitrii Suchkov, Antonin Vinck, Aurélien Fortoul, Françoise Watrin, Alfonso Represa, Marat Minlebaev, Jean-Bernard Manent,
Neurobiology of Disease,
Volume 177,
2023,
106002,
ISSN 0969-9961,
https://doi.org/10.1016/j.nbd.2023.106002.

December 2022

Heterogenous Disease Course and Long-Term Outcome of Children’s Interstitial Lung Disease Related to Filamin A Gene Variants

Julia Carlens, K. Taneille Johnson, Andrew Bush, Diane Renz, Ute Hehr, Florian Laenger , Claire Hogg, Martin Wetzke, Nicolaus Schwerk, and Jonathan H. Rayment 
https://doi.org/10.1513/AnnalsATS.202202-142OC  

October 2021

Genetic causes underlying grey matter heterotopia

Vriendm I, Oegema, R., Open Access Published:October 09, 2021. Genetic causes underlying grey matter heterotopia DOI:https://doi.org/10.1016/j.ejpn.2021.09.015

Sept. 2020

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Nature Reviews. Neurology
Oegema, R., Barakat, T.S., Wilke, M. et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol 16, 618–635 (2020). https://doi.org/10.1038/s41582-020-0395-6

August 2020

Definitions and classification of malformations of cortical development: practical guidelines

Brain, a journal of Neurology
Mariasavina Severino, Ana Filipa Geraldo, Norbert Utz, Domenico Tortora, Ivana Pogledic, Wlodzimierz Klonowski, Fabio Triulzi, Filippo Arrigoni, Kshitij Mankad, Richard J Leventer, Grazia M S Mancini, James A Barkovich, Maarten H Lequin, Andrea Rossi, on behalf of the European Network on Brain Malformations (Neuro-MIG), Definitions and classification of malformations of cortical development: practical guidelines, Brain, Volume 143, Issue 10, October 2020, Pages 2874–2894, https://doi.org/10.1093/brain/awaa174 on behalf of the European Network on Brain Malformations (Neuro-MIG) .

There was a subsequent correction on Table 4:

https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awaa298/5910748

July 2017

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Epi4K Consortium., EuroEPINOMICS-RES Consortium. & Epilepsy Phenome Genome Project. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet 25, 894–899 (2017). https://doi.org/10.1038/ejhg.2017.61