Polymicrogyria with Dysmorphic Neurons in a Patient with <i>SCN2A</i> Mutation-Reference-Cited by-同舟云学术

Polymicrogyria with Dysmorphic Neurons in a Patient with SCN2A Mutation

Published:2022-07-04 Issue:9 Volume:81 Page:758-761
ISSN:0022-3069
Container-title:Journal of Neuropathology & Experimental Neurology
language:en
Short-container-title:

Author:

Gelot Antoinette-Bernabe¹²,Courtin Thomas³,Sileo Chiara⁴,Keren Boris³,Soreze-Smagghue Yohan⁵,Whalen Sandra⁶,Represa Alfonso¹^ORCID

Affiliation:

1. INMED, INSERM, Aix-Marseille University , Marseille, France

2. Neuropathology, Hôpital Trousseau, Assistance Publique-Hôpitaux Parisiens (AP-HP), Sorbonne Université , Paris, France

3. Genetic Department, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC, “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière , Paris, France

4. Department of Pediatric Imaging, Hôpital Trousseau, Assistance Publique-Hôpitaux Parisiens (AP-HP), Sorbonne Université , Paris, France

5. Paediatric and Neonatal Reanimation, Hôpital Trousseau, Assistance Publique-Hôpitaux Parisiens (AP-HP), Sorbonne Université , Paris, France

6. Genetic Department, Hôpital Trousseau, Assistance Publique-Hôpitaux Parisiens (AP-HP), Sorbonne Université , Paris, France

Funder

European Community 7th Framework program

CNRS

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

Link

https://academic.oup.com/jnen/article-pdf/81/9/758/49404943/nlac052.pdf

Reference15 articles.

1. Malformations of cortical development and epilepsy;Barkovich;Cold Spring Harb Perspect Med,2015

2. The histopathology of polymicrogyria: A series of 71 brain autopsy studies;Jansen;Dev Med Child Neurol,2016

3. Polymicrogyria: A common and heterogeneous malformation of cortical development;Stutterd;Am J Med Genet C Semin Med Genet,2014

4. Sodium Channel SCN3A (NaV1.3) regulation of human cerebral cortical folding and oral motor development;Smith;Neuron,2018

5. Organ weights in human fetuses after formalin fixation: Standards by gestational age and body weight;Guihard-Costa;Pediatr Dev Pathol,2002

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1. Correction to;Journal of Neuropathology & Experimental Neurology;2023-09-20