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The histopathology of polymicrogyria Universiteit Antwerpen Vrije Universiteit Brussel
AIM Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of fetal cases. METHOD We have reviewed the neuropathology and medical records of 44 fetuses and 27 children and adults in whom the cortical architecture was focally or diffusely replaced by one or more ...
Polymicrogyria Universiteit Antwerpen Vrije Universiteit Brussel
Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the literature on PMG and the mechanisms of its development, as derived from the neuropathological study of many cases of human PMG, a large proportion in fetal life. This reveals the several processes which ...
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Vrije Universiteit Brussel
Background: Dominant mutations in TUBB2B have been reported in patients with
polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B.
Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations in
TUBB2B by Sanger sequencing.
Results: We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and
c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in ...
polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B.
Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations in
TUBB2B by Sanger sequencing.
Results: We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and
c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in ...
Polymicrogyria with dismorphic basal ganglia? Think tuberculin! (accepted) Vrije Universiteit Brussel
Background: Dominant mutations in TUBB2B have been reported in patients with
polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B.
Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations in
TUBB2B by Sanger sequencing.
Results: We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and
c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in ...
polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B.
Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations in
TUBB2B by Sanger sequencing.
Results: We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and
c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in ...
Genetic heterogeneity of polymicrogyria Universiteit Antwerpen Vrije Universiteit Brussel
Polymicrogyria is a malformation of cortical development characterized by overfolding and abnormal lamination of the cerebral cortex. Manifestations include epilepsy, speech disturbance and motor and cognitive disability. Causes include acquired prenatal insults and inherited and de novo genetic variants. The proportion of patients with polymicrogyria and a causative germline or mosaic variant is not known. The aim of this study was to identify ...
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Universiteit Gent Universiteit Antwerpen
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Vrije Universiteit Brussel
Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging spectrum and the relative frequencies of each subtype are lacking. The aims of this study were to ...
Clinical and imaging heterogeneity of polymicrogyria Universiteit Antwerpen
Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging spectrum and the relative frequencies of each subtype are lacking. The aims of this study were to ...
Speech and language in bilateral perisylvian polymicrogyria Universiteit Antwerpen Vrije Universiteit Brussel
Aim We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral functional impairment. Method A systematic search of MEDLINE, Embase, and PubMed databases was completed on 26th October 2017 using Medical Subject Heading terms synonymous with BPP and ...