Gepubliceerd op: 11-03-2001
Citeer dit artikel als:
 Ned Tijdschr Geneeskd. 2001;145:466-74
Stand van zaken

H.J. ten Donkelaar

,

M. Lammens

,

P. Wesseling

,

H.O.M. Thijssen

,

W.O. Renier

en

F.J.M. Gabreëls

- Neuronal migration disorders of the cerebral cortex form a heterogeneous group of abnormalities, characterised by mental retardation, epilepsy and hypotonia.

- They are prevalent in 1 of the population and in 20-40 of the untreatable forms of epilepsy.

- Disorders at the start of the migration result in nodular heterotopias. Bilateral periventricular nodular heterotopias are X-linked disorders, in which cortical neurons are unable to leave their position at the ventricular surface due to the absence of filamin 1.

- The large group of lissencephalies can be divided into a number of syndromes, each of which is characterised by a gene mutation (LIS1, DCX, RELN). These mutations result in agyria and pachygyria, which are characteristic for this group.

- A number of these abnormalities, especially the smaller nodular heterotopias and focal cortical dysplasia, may be treated by neurosurgical excision.

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