Abbas Tafakhori; Vajiheh Aghamollaii; Sara Faghihi-Kashani; Payam Sarraf; Laleh Habibi
Volume 14, Issue 1 , March 2015, , Pages 1-7
Abstract
Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types ...
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Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management.
Abbas Tafakhori; Mohammad Salehi Sadaghiani; Mohammad Hossein Harirchian; Zeinab Taheri; Vajiheh Aghamollaii
Volume 11, Issue 3 , September 2012, , Pages 115-117
Abstract
Background: Paget's disease is a focal bone disorder manifested as bone overgrowth and disrupted bone integrity as a result of accelerated bone remodelling rate. Rarely, Paget's disease of the base of the skull results in hydrocephalic dementia, and the triad of normal pressure hydrocephalus syndrome ...
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Background: Paget's disease is a focal bone disorder manifested as bone overgrowth and disrupted bone integrity as a result of accelerated bone remodelling rate. Rarely, Paget's disease of the base of the skull results in hydrocephalic dementia, and the triad of normal pressure hydrocephalus syndrome is a much more scarce entity.Case Report: Herein, we report an elderly woman who presented in Imam Khomeini Hospital, Tehran, Iran, with normal pressure hydrocephalus syndrome due to Paget's bone disease. Furthermore, we have reviewed relevant previous studies.Conclusion: Paget's disease can be presented as normal pressure hydrocephalus syndrome.
Abbas Tafakhori; Vajiheh Aghamollaii; Amir Hossein Modabbernia; Majid Ghaffarpour; Hossein Ali Ghelichnia Omrani; Mohammad Hossein Harirchian; Mahsa Mousavi; Parastoo Faraji
Volume 10, 1-2 , June 2011, , Pages 9-15
Abstract
Background: We evaluated the diagnostic value of Electroencephalography (EEG), video-EEG monitoring (VEM) and Magnetic resonance imaging (MRI) of the brain with epilepsy protocol in patients with complex partial epilepsy.Methods: Forty-two consecutive patients underwent complete neurological examination, ...
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Background: We evaluated the diagnostic value of Electroencephalography (EEG), video-EEG monitoring (VEM) and Magnetic resonance imaging (MRI) of the brain with epilepsy protocol in patients with complex partial epilepsy.Methods: Forty-two consecutive patients underwent complete neurological examination, EEG, and MRI with a modified epilepsy protocol. A subset of these patients (n = 29) also underwent VEM. Data were presented using descriptive statistics and were analyzed using Chi square and McNemar tests.Results: Twenty-four women and eighteen men entered the study. The mean (±SD) age for patients, was 25.2(±10.1) and mean (±SD) age at onset was 10.9(±8.1). All patients had abnormal ictal or interictal EEG. Fifteen patients had normal MRI. Temporal lobe involvement was the most common involvement in both EEG (27 patients) and MRI (14 patients). Interictal EEG was abnormal in 81% of patients which showed epileptiform discharges in about half of the cases. In half of patients who had lateralized finding on MRI, site of the lesion was congruent between MRI and interictal EEG. Thirty-six patients had symptoms suggesting a specific lobe, of which interictal EEG was able to show the concordant lobe in 22 (61%) patients. McNemar test showed superiority of EEG over MRI in correct diagnosis of the involved lobe based on the clinical manifestations (P < 0.01).Conclusion: In our setting, both ictal and interictal EEG perform better than MRI in evaluating complex partial epilepsy. In addition, combination of these tools may increase the yield of showing abnormality to near 100% in patients with complex partial epilepsy.