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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
Neurology, Volume 82, No. 12, Year 2014
Notification
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Description
Objective: The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy, previously mapped to the 6q16-q22 region. Methods: We used exome sequencing and analyzed candidate variants in the 6q16-q22 locus, as well as a rescue assay in Fig4-null mouse fibroblasts and immunohistochemistry of Fig4-null mouse brains. Results: A homozygous missense mutation (p.Asp783Val) in the phosphoinositide phosphatase gene FIG4 was identified. Pathogenicity of the variant was supported by impaired rescue of the enlarged vacuoles in transfected fibroblasts from Fig4-deficient mice. Histologic examination of Fig4-null mouse brain revealed neurodevelopmental impairment in the hippocampus, cortex, and cerebellum as well as impaired cerebellar gyration/foliation reminiscent of human cortical malformations. Conclusions: This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with seizures and psychiatric manifestations, in addition to the previously described Charcot-Marie-Tooth disease type 4J and Yunis-Varón syndrome. © 2014 American Academy of Neurology.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3962989/bin/supp_82_12_1068__index.html
https://efashare.b-cdn.net/share/pmc/articles/PMC3962989/bin/supp_WNL.0000000000000241_Figures.pdf
Authors & Co-Authors
Baulac, Stéphanie
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
Lenk, Guy M.
United States, Ann Arbor
University of Michigan, Ann Arbor
Dufresnois, Béatrice
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
Ouled Amar Bencheikh, Bouchra
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Couarch, Philippe
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
Renard, Julie
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
Larson, Peter A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Ferguson, Cole J.
United States, Ann Arbor
University of Michigan, Ann Arbor
Noé, Eric
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
Poirier, Karine
France, Paris
Institut Cochin
Hubans, Christine
France, Lille
Genoscreen
Ferreira, Stéphanie
France, Lille
Genoscreen
Guerrini, Renzo
Italy, San Miniato
Irccs Fondazione Stella Maris
Ouazzani, Réda M.
Unknown Affiliation
El-Hachimi, Khalid Hamid
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
France, Paris
École Pratique Des Hautes Études
Meisler, Miriam H.
United States, Ann Arbor
University of Michigan, Ann Arbor
LeGuern, Éric
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Icm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Statistics
Citations: 89
Authors: 17
Affiliations: 11
Identifiers
Doi:
10.1212/WNL.0000000000000241
ISSN:
00283878
e-ISSN:
1526632X
Research Areas
Cancer
Genetics And Genomics
Mental Health