Abstract
Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. One hundred and forty cases were selected from the epilepsy family data base of the Neuropaediatric Department. The selection parameter was epilepsy with absences manifesting between the 1 st and 5th year of age. The incidence of seizures was evaluated in siblings, parents and parents' siblings. EEG records were available from 103 parents and 106 siblings. The analysis supports the assumption of heterogeneity within early childhood absence epilepsy. Parents and their sibs of cases manifesting with GTCS had seizures twice as often than parents and their sibs in the non-GTCS group. In the affected relatives of the GTCS group early onset GTCS prevailed, whereas in the relatives of the non-GTCS group absences were found more frequently. The EEG of relatives showed elevated incidences of spikes and waves and photosensitivity in both groups, indicating common genetic factors. In parents of the non-GTCS group, however, EEG pathology was significantly more frequent than in parents of the GTCS group. Comparing EEG pathology in parents with seizure risk in siblings, evidence for maternal preponderance in transmission of the seizure liability was found. Mothers' EEG seems to be the best predictor of the seizure risk in probands' siblings. Early childhood epilepsy with absences can be regarded as an intermediate type, showing overlap with early onset GTCS and myoclonic astatic epilepsy on the one side and with childhood absence epilepsy on the other.
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Abbreviations
- CAE :
-
childhood absence epilepsy
- GTCS :
-
generalized tonic clonic seizure
- SW :
-
spikes and waves
- NS :
-
not significant
References
Commission on classification and terminology of the International League Against Epilepsy: Proposal for revised classification of epilepsies and epileptic syndromes (1989) Epilepsia 30:389–399
Dieterich E, Baier WK, Doose H, Fichsel H, Tuxhorn I (1985) Longterm follow-up of childhood epilepsy with absences. I. Epilepsy with absences at onset. Neuropediatrics 16:149–154
Dieterich E, Baier WK, Doose H, Fichsel H (1985) Longterm follow-up of childhood epilepsy with absences. II. Epilepsy with initial grand mal. Neuropediatrics 16:155–158
Doose H, Baier WK (1987) Genetic factors in epilepsies with primarily generalized minor seizures. Neuropediatrics 18 [Suppl I]:1–64
Doose H, Völzke E, Scheffner D (1965) Verlaufsformen kindlicher Epilepsien mit spike wave-Absencen. Arch Psychiat Nervenkr 207:394–415
Doose H, Gerken H, Hien-Voelpel KF, Völzke E (1969) Genetics of photosensitive epilepsy. Neuropädiatrie 1:56–73
Gerken H (1971) Über konstitutionelle EEG-Anomalien bei kindlichen Epilepsien. Habil.-Schrift, Kiel
Janz D, Christian W (1957) Impulsiv-Petit mal. Dtsch Z Nervenheilkd 176:346–386
Loiseau P (1992) Childhood absence epilepsy. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. John Libbey, London, pp 135–150
Tassinari CA, Bureau M, Thames P (1992) Eprlepsy with myoclonic absences. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. John Libbey, London, pp 151–160
Tsuboi T (1977) Primary generalized epilepsy with sporadic myoclonias of myoclonic petit mal type. In: Becker PE, Lenz W, Vogel F, Wendt GG (eds) Topics in human genetics, vol IV. Georg Thieme, Stuttgart
Wolf P (1992) Juvenile absence epilepsy. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. John Libbey, London, pp 307–312