Publications
Cognitive deficits and developmental language disorders in patients with malformations of cortical development University of Antwerp
Neuropathology of genetically defined malformations of cortical development University of Antwerp Vrije Universiteit Brussel
Diagnostic work-up in malformations of cortical development University of Antwerp
International consensus recommendations on the diagnostic work-up for malformations of cortical development University of Antwerp Vrije Universiteit Brussel
Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD) Vrije Universiteit Brussel
Malformations of cortical development (MCD) represent a large group of brain cortical anomalies characterized by distinctive MRI findings. This 'radiologically-based' classification required re evaluation over time on identified underlying mechanisms (cytogenetic and/or molecular). The understanding of genotype findings (nature of cytogenetic/molecular mutation, cellular pathways consequences, timing,…) draw line of evidence on these ...
Malformations of cerebral development and clues from the peripheral nervous system Vrije Universiteit Brussel
Clinical manifestations of malformations of cortical development (MCD) are variable and can range from mild to severe intellectual disability, cerebral palsy and drug-resistant epilepsy. Besides common clinical features, non-specific or more subtle clinical symptoms may be present in association with different types of MCD. Especially in severely affected individuals, subtle but specific underlying clinical symptoms can be overlooked or ...
The spectrum of brain malformations and disruptions in twins University of Antwerp Vrije Universiteit Brussel
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations University of Antwerp Vrije Universiteit Brussel
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations Vrije Universiteit Brussel University of Antwerp
Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of ...