Publications
Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly University of Antwerp Vrije Universiteit Brussel Ghent University
Duplication 2p16 is associated with perisylvian polymicrogyria Vrije Universiteit Brussel
Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, or from numerous genetic causes that still remain difficult to identify. We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region of overlap, and performed gene pathway analysis using Cytoscape. The smallest region of overlap in all three children involved ...
Abnormal development of the human cerebral cortex Vrije Universiteit Brussel
TUBA1A mutations University of Antwerp KU Leuven Vrije Universiteit Brussel
TUBA1A mutations Vrije Universiteit Brussel KU Leuven University of Antwerp
BACKGROUND: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria.
METHODS: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A.
RESULTS: Two novel heterozygous missense mutations in TUBA1A were identified: c.629A>G (p.Tyr210Cys) occurring de novo in a boy with lissencephaly, and ...