{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:52:13Z","timestamp":1781081533615,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,11,5]],"date-time":"2007-11-05T00:00:00Z","timestamp":1194220800000},"content-version":"vor","delay-in-days":12667,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[1973,3]]},"abstract":"<jats:sec><jats:title>SUMMARY<\/jats:title><jats:p>The object of the study presented here was to obtain information about the genetics of absence epilepsies from the family histories of the patients and EEG examination of their siblings. There were 239 patients with absence epilepsy, and EEGs were recorded of 242 siblings of 109 patients, and of 685 control children.<\/jats:p><jats:p>In 30% of the families, at least one relative had a history of seizures. The highest incidence, 7 % and 6 %, was in siblings and parents. The incidence of seizures was higher in the families of female than of male probands.<\/jats:p><jats:p>The EEGs of 242 siblings showed theta rhythms, spike\u2010wave patterns or photosensitivity in 28 %. Of the siblings 1\u20138 yr old, 19 % had theta rhythms with maximum incidence, 27 %, in children 3\u20134 yr old. This was significantly more frequent than in control children. Spike\u2010waves were elicited by photic stimulation in 12% of the siblings, the maximum in children 11\u201312 yr old, 27%.<\/jats:p><jats:p>Spike\u2010waves at rest and during hyperventilation were found in up to 20% of the siblings, depending on age. The maximum incidence in controls did not exceed 3 %. Occipital delta rhythms showed a different age distribution in siblings and controls with a maximum at 9\u201310 yr in siblings and at 3\u20134 yr in controls. The overall incidence of occipital delta rhythms was about the same in siblings and controls.<\/jats:p><jats:p>The relations of the various EEG traits with each other were analyzed. Theta rhythms, spike\u2010waves evoked by photic stimulation, and spike\u2010waves at rest and during hyperventilation occurred in the siblings independently of each other. Occipital delta activity and photosensitivity were inversely related in that siblings of patients with delta rhythms were less often photosensitive than siblings of patients without delta activity. In accordance with former studies occipital delta rhythms are interpreted as a symptom of a partially genetically determined inhibitory cerebral function.<\/jats:p><jats:p>The relations of EEG findings in siblings and clinical data of the probands were examined. The only positive relation was that the siblings of patients with myoclonicastatic seizures had a statistically significant higher incidence of photosensitivity.<\/jats:p><jats:p>Taken as a whole, the results suggest that epilepsies with spike\u2010wave absences are not inherited by an autosomal dominant gene, but that several genetic factors are responsible, some mutually independent and some either reinforcing or inhibiting the others.<\/jats:p><\/jats:sec><jats:sec><jats:title>R\u00c9SUM\u00c9<\/jats:title><jats:p>Le but de cette \u00e9tude \u00e9tait \u010fobtenir des informations sur la g\u00e9n\u00e9tique des absences \u00e9pileptiques, \u00e0 partir des histoires familiales des patients et de \u013eEEG de leurs fr\u00e8res et soeurs. II y avait 239 patients avec des absences \u00e9pileptiques et \u013eon a pratiqu\u00e9 un EEG chez 242 fr\u00e8res et soeurs de 109 patients.<\/jats:p><jats:p>Dans 30% des families, un des membres de celle\u2010ci pr\u00e9sentait une histoire de crises. Le pourcentage le plus \u00e9lev\u00e9, 7% et 6%, se trouve chez les fr\u00e8res et soeurs et leurs parents. \u013dincidence \u010fune histoire familiale positive \u00e9tait plus \u00e9lev\u00e9e pour les propositus de sexe f\u00e9minin que pour ceux de sexe masculin.<\/jats:p><jats:p>Les EEG des 242 fr\u00e8res et soeurs montraient des rythmes th\u00eata, ou des patterns de pointe\u2010ondes dans 28% des cas. Parmi les enfants de 1\u20138 ans, 19% avaient des rythmes th\u00eata avec un maximum \u010fincidence, 27%, chez les enfants de 3\u20134 ans. Ces rythmes \u00e9taient significativement plus fr\u00e9quents que chez un groupe \u010fenfants t\u00e9moins. La stimulation lumineuse intermittente provoquait des pointe\u2010ondes chez 12% des enfants avec une incidence maximale, 27%, chez les enfants de 11\u201312 ans.<\/jats:p><jats:p>Les d\u00e9charges de pointe\u2010ondes au repos et pendant \u013ehyperpn\u00e9e se retrouvaient avec une incidence maximale jusqu'\u00e0 20% chez les enfants en fonction de \u013e\u00e2ge. \u013dincidence maximale dans une population de contr\u00f4le ne d\u00e9passait pas 3%. Les rythmes delta dans la r\u00e9gion occipitale montraient une diff\u00e9rence entre les fr\u00e8res et soeurs et le groupe de contr\u00f4le seulement en fonction de \u013e\u00e2ge, avec un maximum \u010fimportance entre 9 et 10 ans pour les fr\u00e8res et soeurs et 3\u20134 ans pour le groupe de contr\u00f4le. \u013dincidence maximale de cette rythme delta occipitale \u00e9tait sensiblement la m\u00eame chez les fr\u00e8res et soeurs et le groupe de contr\u00f4le.<\/jats:p><jats:p>On a analys\u00e9 les relations entre les diff\u00e9rents aspects EEG et on a constat\u00e9 que les rythmes th\u00eata et les pointe\u2010ondes provoqu\u00e9es par la stimulation lumineuse intermittente et les pointe\u2010ondes au repos et pendant \u013eH.P.N. survenaient chez les enfants, ind\u00e9pendamment les uns des autres. Les rythmes delta occipitales et la photosensibilit\u00e9\u00e9taient chez les fr\u00e8res et soeurs en relation inverse; les fr\u00e8res et soeurs des patients avec des rythmes delta \u00e9taient moins fr\u00e9quemment photosensibles que les fr\u00e8res et soeurs des patients sans ondes delta occipitales. En accord avec des \u00e9tudes pr\u00e9c\u00e9dentes, les rythmes delta occipitaux sont consid\u00e9r\u00e9s comme \u013eexpression \u010fune fonction inhibitrice \u010forigine partiellement g\u00e9n\u00e9tique.<\/jats:p><jats:p>On a pris eh consid\u00e9ration les donn\u00e9es EEG chez les fr\u00e8res et soeurs et les donn\u00e9es cliniques des propositus. La seule relation positive qu'on ait retrouv\u00e9e \u00e9tait que les fr\u00e8res et soeurs des patients avec des crises myoclono\u2010astatiques avaient une incidence statistiquement significative plus \u00e9lev\u00e9e en ce qui concerne la phososensibilit\u00e9.<\/jats:p><jats:p>Dans \u013eensemble, les r\u00e9sultats sugg\u00e8rent que les \u00e9pilepsies \u00e0 type \u010fabsences s'accompagnant de pointe\u2010ondes ne sont pas transmises par un g\u00e8ne autosomique dominant, mais que plusieurs facteurs g\u00e9n\u00e9tiques en sont responsables, dont certains mutuellement ind\u00e9pendants et \u010fautres ayant une action r\u00e9ciproque inhibitrice ou facilitatrice.<\/jats:p><\/jats:sec><jats:sec><jats:title>ZUSAMMENFASSUNG<\/jats:title><jats:p>Ziel der Untersuchung war es, Informationen \u00fcber die Genetik der Absence\u2010Epilepsien aus der Familienanamnese der Patienten und der EEG\u2010Untersuchung ihrer Geschwister zu erlangen. Das Krankengut umfasst 239 F\u00e4lle mit Absence\u2010Epilepsie. Bei 242 Geschwistern von 109 Patienten und 685 hiragesunden Kontrollkindern wurde ein EEG abgeleitet.<\/jats:p><jats:p>In 30% der Familien hatte mindestens ein Verwandter eine Anfallsanamnese. Die h\u00f6chste Morbidit\u00e4t fand sich bei den Geschwistern und Eltern (7% und 6%). In den Familien von weiblichen Probanden war die Morbidit\u00e4t gr\u00f6sser als in den Familien der m\u00e4nnlichen.<\/jats:p><jats:p>Theta\u2010Rhythmen, spike\u2010waves im Ruhe\u2010 und Hyperventilations\u2010EEG oder eine Photosensibilit\u00e4t fanden sich in 28% der EEG der 242 Geschwister. Ein bis acht Jahre alte Geschwister hatten in 19% Theta\u2010Rhythmen; der h\u00f6chste Prozentsatz (27%) fand sich bei 3\u20134 Jahre alten Kindern. Der Unterschied zu Kontrollkindern ist signifikant. Eine Photosensibilit\u00e4t war bei 12% aller Geschwister nachweisbar. Der h\u00f6chste Prozentsatz (27%) fand sich bei 11\u201312 Jahre alten Kindern.<\/jats:p><jats:p>Spike\u2010wave\u2010Muster in Ruhe und bei Hyperventilation traten in altersabh\u00e4ngiger H\u00e4ufigkeit auf, bei den Geschwistern in bis zu 20%, bei den Kontrollkindern in bis zu 3%. Occipitale Delta\u2010Rhythmen fanden sich bei Geschwistern etwa gleich h\u00e4ufig wie bei Kontrollen. Ihre Altersverteilung ist in beiden Gruppen jedoch unterschiedlich: Das H\u00e4ufigkeitsmaximum liegt bei Geschwistern zwischen 9 und 10 Jahren, bei Kontrollen zwischen 3 und 4 Jahren.<\/jats:p><jats:p>Die Beziehungen der verschiedenen EEG\u2010Merkmale untereinander wurden analysiert. Theta\u2010Rhythmen, spike\u2010wave unter Photostimulation und spike\u2010wave in Ruhe und bei Hyperventilation traten bei den Geschwistern unabh\u00e4ngig von einander auf. Occipitale Delta\u2010Rhythmen und Photosensibilit\u00e4t verhielten sich gegenlaufig: Geschwister von Patienten mit Delta\u2010Rhythmen waren seltener photosensibel als Geschwister von Patienten ohne Delta\u2010Rhythmen. In \u00dcbereinstimmung mit fr\u00fcheren Untersuchungen werden occipitale Delta\u2010Rhythmen als Ausdruck eines partiell genetisch determinierten inhibitorischen Mechanismus angesehen.<\/jats:p><jats:p>Die Beziehungen zwischen bestimmten Geschwisterbefunden und klinischen Daten der Probanden werden untersucht. Bei Patienten mit myoklonisch\u2010astatischen Symptomen und ihren Geschwistern kommt eine Photosensibilit\u00e4t geh\u00e4uft vor.<\/jats:p><jats:p>Insgesamt sprechen die Ergebnisse daf\u00fcr, dass Epilepsien mit spike\u2010wave\u2010Absencen nicht einem autosomal dominanten Erbgang folgen. Es sind vielmehr mehrere, von einander unabh\u00e4ngige, sich gegenseitig in ihrer Wirkung addierende und inhibierende genetische Momente verantwortlich.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1528-1157.1973.tb03942.x","type":"journal-article","created":{"date-parts":[[2007,11,5]],"date-time":"2007-11-05T15:04:58Z","timestamp":1194275098000},"page":"57-75","source":"Crossref","is-referenced-by-count":72,"title":["Genetic Factors in Spike\u2010wave Absences"],"prefix":"10.1111","volume":"14","author":[{"given":"H.","family":"DOOSE","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"GERKEN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"HORSTMANN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"VOLZKE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,11,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(59)90104-X"},{"key":"e_1_2_1_3_1","first-page":"142","article-title":"The occipital delta rhythms in petit mal","volume":"13","author":"Cobb W. A.","year":"1961","journal-title":"Electroenceph. clin. Neurophysiol."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438932"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.6.4.235"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00361231"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00346164"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438495"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1968.tb05132.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438755"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091864"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091841"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091777"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091737"},{"key":"e_1_2_1_15_1","first-page":"161","article-title":"Occipital delta rhythms in relation to centrencephalic","volume":"8","author":"Elston C","year":"1956","journal-title":"Electroenceph. clin. Neurophysiol."},{"key":"e_1_2_1_16_1","first-page":"354","volume-title":"Statistical Methods for Research Workers","author":"Fisher R. A.","year":"1946"},{"key":"e_1_2_1_17_1","unstructured":"Gerken H. \u00dcber konstitutionelle EEG\u2010Anomalien bei kindlichen Epilepsien Thesis Kiel 1971."},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091782"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091730"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00355706"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1941.02280180015001"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00935520"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1951.03670060005002"},{"key":"e_1_2_1_24_1","first-page":"532","volume-title":"Epilepsy and Related Disorders","author":"Lennox W. G.","year":"1960"},{"key":"e_1_2_1_25_1","volume-title":"Le Petit Mal et ses Fronti\u00e8res","author":"Loiseau P.","year":"1970"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1105082"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.10.3.228"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.11.6.474"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1159\/000387357"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091851"},{"key":"e_1_2_1_31_1","first-page":"129","volume-title":"Klinische Elektroenzephalographie","author":"Schaper G.","year":"1961"},{"key":"e_1_2_1_32_1","first-page":"296","volume-title":"Handbook of Physiology, Sect. 1","author":"Walter W. G.","year":"1959"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1528-1157.1973.tb03942.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1528-1157.1973.tb03942.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T13:10:27Z","timestamp":1696770627000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1528-1157.1973.tb03942.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,3]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1973,3]]}},"alternative-id":["10.1111\/j.1528-1157.1973.tb03942.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1528-1157.1973.tb03942.x","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,3]]}}}