Hot Water Epilepsy: Is It An Autosomal Dominant Inherited Disorder?

被引:0
作者
Kurt, Semiha [1 ]
Yigit, Serbulent [2 ]
Unaldi, Hatice Karaer [1 ]
Kaplan, Yuksel [3 ]
Aksoy, Durdane [1 ]
Cevik, Betul [1 ]
Solmaz, Volkan [1 ]
Sumbul, Orhan [1 ]
机构
[1] Gaziosmanpasa Univ, Tip Fak, Norol Anabilim Dali, Tokat, Turkey
[2] Gaziosmanpasa Univ, Tip Fak, Tibbi Biyol Anabilim Dali, Tokat, Turkey
[3] Inonu Univ, Tip Fak, Norol Anabilim Dali, Malatya, Turkey
来源
EPILEPSI | 2014年 / 20卷 / 02期
关键词
Pedigree; bathing epilepsy; autosomal dominant; hot water epilepsy;
D O I
10.5505/epilepsi.2014.14622
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objectives: Hot water epilepsy (HWE), also called as bathing epilepsy is a reflex epilepsy in which seizures are triggered by the stimulus of bathing in hot water. The relationship between epilepsy syndromes and genetic have been known for a long time. In this study, we aimed to determine the inheritance pattern of the five HWE cases with a positive family history. Methods: Pedigrees of the five index cases had a positive family history were drawn and their family members were interviewed. Age, sex, seizure types (classified according to ILAE Task Force on Classification and Terminology), seizure frequency, neurological examination findings, if available EEG and MRI results of patients were recorded. Results: Sixteen patients from five families were included in the study. The patients (ten male, six female) were between 15 and 73 years of age. Four families without consanguineous marriage had patients with HWE at least two generations. One family with consanguineous marriage had with HWE two generations. Conclusion: When analyzed pedigrees, except one family, the disease appears at least two generation in the same family without consanguineous marriage. Our data suggest that the HWE may be an autosomal dominant inherited disorder with low- penetrance and lowexpressivity.
引用
收藏
页码:75 / 81
页数:7
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