Utin A V
Genetika. 1975;11(2):162-7.
The correlation of the frequency of intra-paired phenotypical resemblance of intrafamilial (parents-children--46 pairs, sibses--26 pairs) and interfamilial (48 pairs) epilepsy according to the complex of constitutional and clinical features is studied. The intra-paired resemblance of the onset (homochronicity) and clinic (homotypia) of intrafamilial (even in different generations) epilepsy was discovered more often (41.3--85.5%) than interfamilial epilepsy (18.7--33.3%). The complete intra-paired phenotypical resemnlance is the most characteristic for generalized, than focal intrafamiliar epilepsy. The comparison of the frequency of intra-paired resemblance according to constitutional features and the medium influence showed that the phenotypical manifestation of the epileptical genotype depends on the complex constellation of hereditary and medium factors being subjected to considerable modification by exogenes. However the clear difference of the frequency of intra-paired clinical resemblance of intra- and interfamilial epilepsy in considerable degree was caused rather by consitutional pecularities than by exogenens influence and may testify to possible hereditary heterogeneity of epilepsy.
根据体质和临床特征复合体，研究了家族内（父母 - 子女——46对，兄弟姐妹——26对）和家族间（48对）癫痫发作时配对表型相似频率的相关性。家族内癫痫（即使在不同代）发作（同步性）和临床症状（同型性）的配对相似性比家族间癫痫更常出现（41.3 - 85.5% 对比18.7 - 33.3%）。完全配对表型相似在全身性家族内癫痫中比局灶性家族内癫痫更具特征性。根据体质特征和环境影响对配对相似频率进行比较表明，癫痫基因型的表型表现取决于遗传和环境因素的复杂组合，且易受外源性因素的显著改变。然而，家族内和家族间癫痫发作时配对临床相似频率的明显差异在很大程度上是由体质特性而非外源性影响造成的，这可能证明癫痫存在可能的遗传异质性。
