Published in
Oxford University Press (OUP), Brain, 11(142), p. 3367-3374, 2019
DOI: 10.1093/brain/awz272
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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants
Journal article published in 2019 by
Nicolas Chatron,
Sara Cabet 
,
Eudeline Alix,
Annie Buenerd,
Phillip Cox ,
Laurent Guibaud,
Audrey Labalme,
Peter Marks,
Deborah Osio ,
Audrey Putoux,
Damien Sanlaville,
Gaetan Lesca ,
Alexandre Vasiljevic
,
Eudeline Alix,
Annie Buenerd,
Phillip Cox ,
Laurent Guibaud,
Audrey Labalme,
Peter Marks,
Deborah Osio ,
Audrey Putoux,
Damien Sanlaville,
Gaetan Lesca ,
Alexandre Vasiljevic
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Abstract
Polymicrogyria is a malformation of cortical development. Chatron et al. describe four patients with a lethal syndromic polymicrogyria with necrotic and calcified areas in the basal ganglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts. Exome sequencing reveals the role of ATP1A2 homozygous variants in this new phenotype.