Medicinski vjesnik, Vol. 31 No. (1-4), 1999.
Stručni rad
Genetics of the epilepsies in childhood
Duško Mardešić
Sažetak
This review article, written for the broader medical community, has two aims. The first one is to inform about the implementation of the latest theoretical advances in medical genetics as applied to the field of the epilepsies. The second aim is to present data for the genetic counselor in the epileptic clinic about the risk of developing epilepsy in family members of epileptic patients. Recently discovered genes are described, the mutations of which are responsible for the occurence of some neurologic diseases which are the cause of symptomatic epilepsy. Included here are some dominantly inherited cerebral malformations, neurocutaneous syndromes and many recessively inherited metabolic diseases. However, for a deeper insight into the pathogenesis of the epilepsies much more important are the identification, mapping, cloning of genes and defining of the corresponding gene products achieved during the last ten years for three idiopathic epilepsies: the dominantly inherited nocturnal frontal epilepsy, the dominantly inherited benign neonatal convulsions and the progressive myoclonic epilepsy of Unverricht and Lundborg. The second part of this article is intended for the everyday work of the practitioner in the epilepsy clinic in genetic counselling of epileptic patients and their families. Theoretical and empyrical risks of developing epilepsy are provided for siblings and descendants of the epileptic patients. Such data, shown in the form of tables and graphs, are indispensable for scientifically based genetic informing and counseling.
Ključne riječi
Hrčak ID:
191972
URI
Datum izdavanja:
1.12.1999.
Posjeta: 4.112 *