Hereditary epilepsy syndromes

This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described. (C) 1997 Elsevier Science B.V

Hereditary epilepsy syndromes

This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described. (C) 1997 Elsevier Science B.V

Clinical and genetic aspects of idiopathic epilepsies in childhood

The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels or functionally related structures. For many other idiopathic syndromes, there is linkage evidence to one or more chromosomes, but the genes have not yet been identified. Identification of the responsible genes and their gene products will further increase the knowledge of the pathogenic mechanisms involved in epilepsy, and will hopefully facilitate the development of drug targets for the effective treatment of epilepsy. This review gives an overview of the clinical characteristics and an update of genetic research of those idiopathic childhood epilepsies for which genes have been identified and the monogenic idiopathic childhood epilepsies for which mapping data are available. © 2005 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

A Dutch family with 'familial cortical tremor with epilepsy' - Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1

Objectives To describe the clinical characteristics of a large Dutch family with cortical tremor with epilepsy (FCTE) and to test for genetic linkage of FCTE to chromosome 8q23.3-q24.1. Background FCTE is an idiopathic generalised epilepsy of adult onset with autosomal dominant inheritance. It is characterised by kinesiogenic tremor and myoclonus of the limbs, generalised seizures, and electrophysiological findings consistent with cortical reflex myoclonus. Genetic analysis has been performed in five Japanese families. In all families, linkage was shown to chromosome 8q23.3-q24.1. Methods Clinical and electrophysiological data of a four-generation family, suspected of autosomal dominant inherited FCTE, were collected and linkage analysis was performed. Results Clinical and electrophysiological findings were consistent with a diagnosis of FCTE. Of 41. relatives examined, 13 subjects were considered to be definitely affected, three were probably affected and ten were unaffected. In 15 relatives, the diagnosis could not be established. Linkage to chromosome 8q23.3-q24.1 was excluded. Conclusions In this family with autosomal dominant FCTE, specific clinical and electrophysiological features were identified. Exclusion of linkage to chromosome 8q23.3-q24.1 indicates that genetic heterogeneity exists for FCTE

Familial occurrence of epilepsy in children with newly diagnosed multiple seizures:Dutch study of epilepsy in childhood

Purpose: To study the familial occurrence of epilepsy in children with newly diagnosed multiple unprovoked seizures. Methods: Between August 1988 and September 1992, 462 children with two or more unprovoked seizures were included in the prospective Dutch Study of Epilepsy in Childhood. Seizures and epilepsy syndromes of probands were classified according to the International Classifications. Probands with at least 1 first-degree relative with epilepsy were selected. Seizures and syndromes of their relatives were classified using medical files and telephone interviews. Results: In 42% of the probands, the epilepsy was classified as localization-related, in 57% as generalized, and in 1% as undetermined whether focal or generalized. The 47 (10.2%) children with at least 1 first-degree relative with epilepsy less frequently had localization-related epilepsy (23%) and more often had generalized epilepsy (77%) as compared with the total group Of probands. Fifty-eight first-degree and 21 other relatives had epilepsy. Thirty-three of the 40 (83%) first-degree relatives with idiopathic or cryptogenic epilepsy had the same seizure type as the proband, but detailed information about their seizures was sometimes difficult to obtain. Of the 12 first-degree relatives with epilepsy syndromes classifiable according to the International League Against Epilepsy (ILAE) 7 (58%) had the same syndrome as the proband. Conclusions: In 10% of children with newly diagnosed epilepsy, the condition is familial. Relatively more often, these children have generalized epilepsy syndromes as compared with children with a negative family history. Most of the relatives with idiopathic or cryptogenic epilepsy had the same seizure type as the proband. These findings confirm the role of genetic factors in the pathogenesis of epilepsy