Hot Water Epilepsy: Is It An Autosomal Dominant Inherited Disorder?
Küçük Resim Yok
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Kare Publ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Pedigree, bathing epilepsy, autosomal dominant, hot water epilepsy
Kaynak
Epilepsi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
20
Sayı
2
