Weber Yvonne G, Berger Andrea, Bebek Nerses, Maier Sabine, Karafyllakes Skevos, Meyer Nancy, Fukuyama Yukio, Halbach Anne, Hikel Christiane, Kurlemann Gerhard, Neubauer Bernd, Osawa Makiko, Püst Burkhard, Rating Dietz, Saito Kayoko, Stephani Ulrich, Tauer Ulrike, Lehmann-Horn Frank, Jurkat-Rott Karin, Lerche Holger
Department of Neurology, University of Ulm, Ulm, Germany.
Epilepsia. 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x.
Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families.
We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed.
The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136.
Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.
良性家族性婴儿惊厥（BFIC）是特发性癫痫的一种形式。其特征是在出生后第六个月左右出现无热惊厥发作群。该疾病病程良性，发育正常，成年后癫痫发作罕见。先前的连锁分析确定了19号染色体q12 - q13.11、16号染色体p12 - q12和2号染色体q23 - 31上的三个易感位点。然而，尚未鉴定出致病基因。我们对另外16个BFIC家族进行了连锁研究。
我们收集了16个无其他发作性运动障碍的BFIC家族，这些家族来自德国、土耳其或日本，有两到八名受影响个体。进行了标准的两点连锁分析。
临床表现包括多种发作类型，从面色苍白、发绀伴意识改变到全身性强直 - 阵挛发作。发作间期脑电图显示6例患者有局灶性癫痫样放电，3例不同患者的发作期脑电图显示在不同脑区有局灶性发作起始。在所有分析的家族中，我们没有发现与19号染色体和2号染色体上的BFIC位点以及8号染色体和20号染色体上已知的良性家族性新生儿惊厥位点连锁的证据。在14个家族中，16号染色体位点在标记物D16S411处的累积最大两点对数优势分数为6.1，可得到确认，BFIC的已知区域可缩小至标记物D16S690和D16S3136之间的22.5兆碱基对。
我们的数据证实了16号染色体位点对BFIC的重要性，并可能缩小相关区间。
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