A Neurophysiological Investigation on the Genetic Factors for Febrile Convulsions

高热惊厥遗传因素的神经生理学研究

• 批准号: 03670493
• 负责人: YAMATOGI Yasuko
• 金额: $ 1.02万
• 依托单位: Okayama University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1991
• 资助国家: 日本
• 起止时间: 1991 至 1992
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-03670493/
• 关键词: febrile convulsion; genetics; convulsive predisposition; epileptic predisposition; electroencephalography; epileptic discharge; pseudo petit mal discharge; hypnagogic paroxysmal spike-wave activity; epilepsy; てんかん波; abnormal θ rhythm(異常θリズム); て

To clarify the difference or relation between genetic factors for febrile convulsions (FC) and epilepsy (EP), two studies were carried out ; (1)a prospective neurophysiological follow-up of cohort of 113 offspring of 64 epileptic patients supposed to have high risk for convulsive disorders, particularly for EP,and(2)a clinicoelectrical study on 113 sibling of 88 patients with FC.1)Among 103 children born to 64 epileptic parents, clinical seizures developed in 20 children (19.4%) and epileptic discharges in 27 (26.2%). Of clinical seizures, FC appeared in 13 cases (12.6%), recurrent afebrile seizures in 5 (4.9%), an isolated afebrile seizure (probably benign infantile convulsion) and a post-traumatic early seizure in one each (1.0%). According to Ohtahara' classfication, FC cases were subclassfied into 4 cases (3.9%) of simple FC,one case (1.0%) of complex FC,and 8 cases (7.8%) of epileptic FC.Thus, incidence of recurrent afebrile seizures (4.9%) was about 5 times higher than the preval … More ence rate of childhood epilepsy in general population, i.e.0.82% in Okayama Prefecture. Adding epileptic FC,it rose up to over 10 times. But, no increase was observed in the incidence of simple FC (3.9%) or non-epileptic FC (4.9%) compared to the reported prevalence rates of FC in the general population (5-10%).2)With 66 offspring of epileptic parents over 3 years of age, clinical seizures were noted in as many as 12 cases (42.9%) among 28 cases with additional genetic factor (AGF) within the second degree of relatives. This sate was significantly higher than 13.1% (5 cases) in 38 cases without such additional family history of convulsive disorders. Although FC occurred in 28.6% (8 cases) of the AGF group and 10.5% (4 cases) of the non-AGF group, epileptic FC consisted 87.5% (7/8 cases) of FC in the AGF group compared to 25.0% (1/4 cases) in the non-AGF group. These finding suggested that the inherited factor through epileptic parents is the epileptic predisposition.3)39 (34.5%) of 113 sibling of 88 FC children had FC,including 13 cases (11.5%) with epileptic FC whose EEG showed epileptic discharges. It was also noteworthy that no epileptic FC was noted in sibling of simple FC.4)Pseudo petit mal discharge and hypnagogic paroxysmal spike-wave activity, which have been considered characteristic to FC,were rarely detected in simple FC,but frequently in epileptic FC.Accordingly, these EEG pattern, particularly the latter, were suggested to relate the epileptic predisposition in infancy and early childhood.In conclusion, this investigation supported the difference between convulsive and epileptic predisposition. Epileptic FC may closely relate to the epileptic predisposition which is pathological, but simple FC will be a specific group based on the convulsive predisposition which will be universally predisposed to human being, regulating the convulsive threshold. Less

为阐明热性惊厥（FC）和癫痫（EP）遗传因素之间的差异或联系，进行了两项研究;（1）对64名癫痫患者的113名后代进行前瞻性神经生理学随访，这些患者被认为具有惊厥性疾病的高风险，特别是EP，（2）对88例FC患者的113名同胞的临床电生理研究。1）64例癫痫患者的父母所生的103名子女中，临床发作20例（19.4%），癫痫样放电27例（26.2%）。临床惊厥中，FC 13例（12.6%），反复无热性惊厥5例（4.9%），单纯无热性惊厥（可能为良性婴儿惊厥）和外伤后早期惊厥各1例（1.0%）。按Ohtahara分类法，FC又可分为单纯性FC 4例（3.9%），复杂性FC 1例（1.0%），癫痫性FC 8例（7.8%），无热性惊厥复发率（4.9%）比对照组高5倍。 ...更多信息 冈山县一般人群中儿童癫痫的发病率i.e.0.82加上癫痫FC，上升了10倍以上。但单纯FC的发生率没有增加（3.9%）或非癫痫FC（4.9%）相比，报告的患病率FC在一般人群（5-10%）。2）与66个子女的癫痫父母超过3岁，在28例二级亲属中有额外遗传因素（AGF）的患者中，临床发作者达12例（42.9%）。在38例无惊厥性疾病家族史的病例中，这种情况明显高于13.1%（5例）。虽然FC发生在AGF组的28.6%（8例）和非AGF组的10.5%（4例），但癫痫FC在AGF组中占FC的87.5%（7/8例），而在非AGF组中占25.0%（1/4例）。（3）88例FC患儿113名同胞中有39例（34.5%）有FC，其中13例（11.5%）有癫痫FC，脑电图有癫痫样放电。4）假性小错误放电和临睡前阵发性棘波活动在单纯性FC中很少出现，而在癫痫性FC中却很常见，因此，这些脑电图类型，特别是后者，可能与婴儿期和儿童早期的癫痫易感性有关。这项研究支持惊厥和癫痫倾向之间的差异。癫痫FC可能与病理性的癫痫易感性密切相关，而单纯FC则是基于人类普遍易感的惊厥易感性而形成的一个特殊的组群，调节着惊厥阈值。少

项目成果

Yamatogi Y: EEG in Febrile Convulsions. In : Nihei K (ed.) Febrile Convulsions. New Mook Pediatrics 2. Kanahara, Tokyo (in Japanese), 51-61 (1992)

Yamatogi Y：热性惊厥的脑电图。

Yamatogi Y, et al.: "A prospective follow-up of the offspring of epileptic patients." The Japanese Journal of Psychiatry and Neurology. 47. 309-311 (1993)

Yamatogi Y 等人：“对癫痫患者后代的前瞻性随访。”

Moriyama M,Yamashita S,Furuno K,Sato T,Domoto H,Yamatogi Y,Kawasaki H,Gomita Y: "Influence of lactation on plasma phenobarbital concentration in rats." Japanese Journal of Pharmacology. 73. 191-196 (1997)

Moriyama M，Yamashita S，Furuno K，Sato T，Domoto H，Yamatogi Y，Kawasaki H，Gomita Y：“哺乳对大鼠血浆苯巴比妥浓度的影响。”

山磨 康子、大田原 俊輔: "神経疾患の遺伝学(分担:第11章てんかん及びその辺縁疾患、臨床遺伝)" 金原出版(近藤喜代太郎、鈴木義之編), 40頁(225-264) (1993)

山间泰子、大田俊辅：《神经系统疾病的遗传学（第11章：癫痫及其周围疾病、临床遗传学）》金原出版社（近藤清太郎、铃木义之编），40页（225-264）（1993年）

山磨 康子 他5名: "てんかんと妊娠・出産(分担:第17章てんかん患者の児の臨床・神経生理学的追跡)" 岩崎学術出版(福島裕、兼子直編), 17頁(223-239) (1993)

Yasuko Yamama 等 5 人：“癫痫、妊娠和分娩（第 17 章：癫痫患者婴儿的临床和神经生理学随访）”岩崎学术出版社（福岛浩和金子奈绪编辑），第 17 页（223-239） ) ) (1993)