- Email: [email protected]
New autosomal-dominant partial epilepsy syndrome
the benign course of this disorder. Genotyping was performed on 42 members of 7 BIFC families, with 42 markers, comprising microsatellites linked to mendelian diseases with epilepsy (benign neonatal familial convulsions, juvenile myoclonic epilepsy, progressive myoclonus epilepsy of Unverricht-Lundborg, and ceroid-lipofuscinosis). The exclusion map covers a total region (lod score less than - 2) of at least 200 cM. We are now focusing on 2 nonexcluded regions, by analyzing adjacent markers. Clinical and genetic features suggest that BIFC is an epileptic disorder distinct from benign neonatal familial convulsions. We believe that BIFC is a new epileptic syndrome that should be included among the idiopathic forms.
39. NEW AUTOSOMAL-DOMINANT P A R T I A L EPILEPSY SYNDROME Ingrid E. Scheffer, Ian J. Hopkins, A. Simon Harvey, and Samuel F. Berkovic, Melbourne, Australia We recently described autosomal-dominant frontal lobe epilepsy (ADFLE). Five families demonstrated a distinctive clinical picture of clusters of brief nocturnal motor seizures that were frequently misdiagnosed as nonepileptic parasomnias, and had normal interictal EEG studies. We now describe a family containing 7 affected individuals who presented a different electroclinical picture of autosomal-dominant partial epilepsy characterized by diurnal seizures and active interictal EEG abnormalities. Affected and unaffected family members underwent clinical assessment and EEG sleep studies. Two different seizure types were seen, diurnal complex partial seizures and secondarily generalized convulsions. Ictal video-EEG recordings documented typical supplementary motor area seizure semiology, confirmed in 1 child with ictal SPECT studies. Other family members had secondarily generalized convulsions. There was marked intrafamily variation in severity. EEG findings were striking in all affected individuals showing active focal interictal epileptiform activity in the frontal, centroparietal, or temporal regions. Structural neuroimaging was normal. Autosomal-dominant inheritance occurred over 4 generations. This family presents a remarkable partial epilepsy syndrome characterized by interictal epileptiform abnormalities with variable location, yet determined by a single gene. Molecular genetic studies currently underway will determine if this disorder is an allelic variant of ADFLE or a separate genetic disorder.
40. DUTCH STUDY OF EPILEPSY IN CHILDHOOD: PRELIMINARY RESULTS AFTER 2 YEARS OF FOLLOW-UP Willem F. Arts, Cees A. van Donselaar, Ada T. Geerts, Oebele F. Brouwer, Hans Stroink, and A.C. Boudewijn Peters, The Hague, Rotterdam, Leyden, and Utrecht, The Netherlands
The ongoing Dutch Study of Epilepsy in Childhood is designed a.o. to evaluate the general prognosis of childhood epilepsy. To this end, 497 children (ages 1 month to 15 years) with newly diagnosed epilepsy were followed prospectively for at least 2 years. In this preliminary analysis, we present the results at 2 years of follow-up of the first 221 children in the study with a dual purpose: (1) to evaluate the outcome criteria at 2 years that
we defined before (Arts et al., Ann Neurol 1991 ;30:115); and (2) to study the results of AED treatment with a special view to the relative role of monotherapy vs. polytherapy, as prescribed by the treating child neurologist. The outcome criteria at 2 years after the start of treatment were as follows: good result, at least 1 year without seizures during the 2 years of follow-up; fair, no seizures for at least 6 but not more than 12 months; and poor, no seizure-free period of more than 6 months. Of the 221 patients, 213 could be analyzed. The outcome of these 213 was as follows: good in 149 children (70%), fair in 36 (17%), and poor in 28 (13%). A comparison with 2 other definitions of outcome, which count numbers of seizures instead of seizure-free periods, revealed a fair correlation. However, measuring seizure-free periods was far easier to apply and had, in our opinion, more clinical relevance. To reach the above results, 175 children (82%) were treated with monotherapy (132 with 1 drug, 43 with 2 or more successive drugs). In this group the results included: good 139, fair 28, and poor 8. Polytherapy was used in 38 children with the following results: good 10, fair 8, and poor 20. Polytherapy induced good results in 25% of patients in whom it was used (5% of the total group). Treatment satisfaction or noncompliance was the main reason for not proceeding from monoto polytherapy in 36 children who did not attain good results.
41. IDIOPATHIC OCCIPITAL EPILEPSIES Roberto H. Caraballo, Ricardo Cersosimo, Silvia Tenenbaum, Carlos S. Medina, and Natalio Fejerman, Buenos Aires, Argentina This is a series of 43 patients with electroclinical features of idiopathic epilepsies related to occipital localization, followedup 1-5 years. Two well-defined clusters of clinical and EEG findings were recognized, and a third, a smaller group, was also disclosed. Thirty-one patients (19 boys, 12 girls) were included in group I. Mean age was 5 years, ranging from 20 months to 12 years. Seizures occurred during sleep in all patients and 22% of them also had seizures while awake. The dominant clinical pattern of seizures was tonic deviation of the head followed by vomiting. EEG revealed uni- or bilateral occipital spikes which only appeared during sleep in 26 patients. No paroxysms of occipital spike-and-wave or variation on eye opening were found. Group II comprised 12 patients (9 females, 3 males). Mean age at onset was 8 years, 5 months, ranging 4-13 years. Clinical features were visual symptoms, partial motor seizures, with or without secondary generalization, followed by migrainelike headaches. Seizures occurred during sleep in 25% and while awake in 91% of patients. EEG demonstrated uni- or bilateral occipital spike-and-wave and slow spikes and slow-wave paroxysms which only appeared during sleep in 1 patient. Blockage of discharges upon eye opening were found in 41.4%. Three other patients had clinical and EEG features belonging to both occipital and rolandic idiopathic epilepsies.
42. HIPPOCAMPAL LESIONS INDUCED BY F O C A L STATUS EPILEPTICUS ARE EPILEPTOGENIC Yukiyoshi Shirasaka and Claude G. Wasterlain, Sepulveda and Los Angeles, California Recent studies suggest that seizure-induced brain damage causes
PEDIATRIC NEUROLOGY Vol. l 1 No. 2 95
39. NEW AUTOSOMAL-DOMINANT P A R T I A L EPILEPSY SYNDROME Ingrid E. Scheffer, Ian J. Hopkins, A. Simon Harvey, and Samuel F. Berkovic, Melbourne, Australia We recently described autosomal-dominant frontal lobe epilepsy (ADFLE). Five families demonstrated a distinctive clinical picture of clusters of brief nocturnal motor seizures that were frequently misdiagnosed as nonepileptic parasomnias, and had normal interictal EEG studies. We now describe a family containing 7 affected individuals who presented a different electroclinical picture of autosomal-dominant partial epilepsy characterized by diurnal seizures and active interictal EEG abnormalities. Affected and unaffected family members underwent clinical assessment and EEG sleep studies. Two different seizure types were seen, diurnal complex partial seizures and secondarily generalized convulsions. Ictal video-EEG recordings documented typical supplementary motor area seizure semiology, confirmed in 1 child with ictal SPECT studies. Other family members had secondarily generalized convulsions. There was marked intrafamily variation in severity. EEG findings were striking in all affected individuals showing active focal interictal epileptiform activity in the frontal, centroparietal, or temporal regions. Structural neuroimaging was normal. Autosomal-dominant inheritance occurred over 4 generations. This family presents a remarkable partial epilepsy syndrome characterized by interictal epileptiform abnormalities with variable location, yet determined by a single gene. Molecular genetic studies currently underway will determine if this disorder is an allelic variant of ADFLE or a separate genetic disorder.
40. DUTCH STUDY OF EPILEPSY IN CHILDHOOD: PRELIMINARY RESULTS AFTER 2 YEARS OF FOLLOW-UP Willem F. Arts, Cees A. van Donselaar, Ada T. Geerts, Oebele F. Brouwer, Hans Stroink, and A.C. Boudewijn Peters, The Hague, Rotterdam, Leyden, and Utrecht, The Netherlands
The ongoing Dutch Study of Epilepsy in Childhood is designed a.o. to evaluate the general prognosis of childhood epilepsy. To this end, 497 children (ages 1 month to 15 years) with newly diagnosed epilepsy were followed prospectively for at least 2 years. In this preliminary analysis, we present the results at 2 years of follow-up of the first 221 children in the study with a dual purpose: (1) to evaluate the outcome criteria at 2 years that
we defined before (Arts et al., Ann Neurol 1991 ;30:115); and (2) to study the results of AED treatment with a special view to the relative role of monotherapy vs. polytherapy, as prescribed by the treating child neurologist. The outcome criteria at 2 years after the start of treatment were as follows: good result, at least 1 year without seizures during the 2 years of follow-up; fair, no seizures for at least 6 but not more than 12 months; and poor, no seizure-free period of more than 6 months. Of the 221 patients, 213 could be analyzed. The outcome of these 213 was as follows: good in 149 children (70%), fair in 36 (17%), and poor in 28 (13%). A comparison with 2 other definitions of outcome, which count numbers of seizures instead of seizure-free periods, revealed a fair correlation. However, measuring seizure-free periods was far easier to apply and had, in our opinion, more clinical relevance. To reach the above results, 175 children (82%) were treated with monotherapy (132 with 1 drug, 43 with 2 or more successive drugs). In this group the results included: good 139, fair 28, and poor 8. Polytherapy was used in 38 children with the following results: good 10, fair 8, and poor 20. Polytherapy induced good results in 25% of patients in whom it was used (5% of the total group). Treatment satisfaction or noncompliance was the main reason for not proceeding from monoto polytherapy in 36 children who did not attain good results.
41. IDIOPATHIC OCCIPITAL EPILEPSIES Roberto H. Caraballo, Ricardo Cersosimo, Silvia Tenenbaum, Carlos S. Medina, and Natalio Fejerman, Buenos Aires, Argentina This is a series of 43 patients with electroclinical features of idiopathic epilepsies related to occipital localization, followedup 1-5 years. Two well-defined clusters of clinical and EEG findings were recognized, and a third, a smaller group, was also disclosed. Thirty-one patients (19 boys, 12 girls) were included in group I. Mean age was 5 years, ranging from 20 months to 12 years. Seizures occurred during sleep in all patients and 22% of them also had seizures while awake. The dominant clinical pattern of seizures was tonic deviation of the head followed by vomiting. EEG revealed uni- or bilateral occipital spikes which only appeared during sleep in 26 patients. No paroxysms of occipital spike-and-wave or variation on eye opening were found. Group II comprised 12 patients (9 females, 3 males). Mean age at onset was 8 years, 5 months, ranging 4-13 years. Clinical features were visual symptoms, partial motor seizures, with or without secondary generalization, followed by migrainelike headaches. Seizures occurred during sleep in 25% and while awake in 91% of patients. EEG demonstrated uni- or bilateral occipital spike-and-wave and slow spikes and slow-wave paroxysms which only appeared during sleep in 1 patient. Blockage of discharges upon eye opening were found in 41.4%. Three other patients had clinical and EEG features belonging to both occipital and rolandic idiopathic epilepsies.
42. HIPPOCAMPAL LESIONS INDUCED BY F O C A L STATUS EPILEPTICUS ARE EPILEPTOGENIC Yukiyoshi Shirasaka and Claude G. Wasterlain, Sepulveda and Los Angeles, California Recent studies suggest that seizure-induced brain damage causes
PEDIATRIC NEUROLOGY Vol. l 1 No. 2 95