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Phenotypic spectrum in families with mesial temporal lobe epilepsy probands.

Phenotypic spectrum in families with mesial temporal lobe epilepsy probands.
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Cvetkovska E, Kuzmanovski I, Babunovska M, Boshkovski B, Cangovska TC, Trencevska GK,


Cvetkovska E, Kuzmanovski I, Babunovska M, Boshkovski B, Cangovska TC, Trencevska GK, (click to view)

Cvetkovska E, Kuzmanovski I, Babunovska M, Boshkovski B, Cangovska TC, Trencevska GK,

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Seizure 2018 03 2758() 13-16 pii S1059-1311(17)30832-4
Abstract
PURPOSE
The traditional perception of mesial temporal lobe epilepsy (MTLE) as a predominantly acquired disorder is challenged due to emerging evidence of familial aggregation. In this study, we ascertained the extent of familial occurrence of epilepsy in MTLE patients, as well as phenotypic heterogeneity in affected relatives.

METHODS
We identified and reevaluated patients with MTLE, treated at Epilepsy Department for a period of two years. All eligible putatively affected relatives were asked to participate in the study. In addition to comprehensive epilepsy interview, they underwent EEG and MRI studies.

RESULTS
52 patients with MTLE were included; nine of them (17%) had at least one family member with epilepsy. Subsequently, we analyzed nine probands with MTLE and a total of 15 relatives with seizures. Among affected relatives, spectrums of clinical manifestations were observed. Typical MTL seizures were described in five individuals, while other types of focal or generalized tonic-clonic seizures were reported in other ten relatives. A total of seven individuals had febrile seizures. Hippocampal sclerosis was found in three probands and none of the relatives. Two of affected family members had a traumatic brain injury in addition to febrile seizures, prior to the occurrence of their epilepsy.

CONCLUSION
We demonstrate that familiar occurrence of epilepsy and subsequently putative genetic background, accounts for a substantial proportion MTLE patients. In addition, we foreground the remarkable intra- and interfamilial phenotypic heterogeneity than usually described, displaying the complexity of the genotype-phenotype correlations.

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