Expression analysis and clinical correlation of aquaporin 1 and 4 genes in human hippocampal sclerosis.

Mesial temporal sclerosis (MTS) is the most frequent cause of drug resistant symptomatic partial epilepsy. The mechanism and genetic background of this unique pathology are not well understood. Aquaporins (AQP) are regulators of water homeostasis in the brain and are expressed in the human hippocampus. We explored the role of AQP genes in the pathogenetic mechanisms of MTS through an evaluation of gene expression in surgically removed human brain tissue. We analyzed AQP1 and 4 mRNA levels by quantitative real-time polymerase chain reaction and normalized to ABL and cyclophilin genes, followed by immunohistochemistry for AQP4. Relative expressions were calculated according to the delta Ct method and the results were compared using the Mann-Whitney U test. Brain specimens of 23 patients with epilepsy who had undergone surgery for MTS and seven control autopsy specimens were investigated. Clinical findings were concordant with previous studies and 61% of the patients were seizure-free in the postoperative period. AQP1 and 4 gene expression levels did not differ between MTS patients and control groups. Immunofluorescence analysis of AQP4 supported the expression results, showing no difference. Previous studies have reported contradictory results about the expression levels of AQP in MTS. To our knowledge, only one study has suggested upregulation whereas the other indicated downregulation of perivascular AQP4. Our study did not support these findings and may rule out the involvement of AQP in human MTS.

Sleep characteristics of patients with epilepsy with pure sleep-related seizures.

OBJECTIVE: Our aim was to investigate the clinical features and sleep characteristics of patients with pure sleep-related seizures. METHODS: Patients with pure sleep epilepsy were prospectively enrolled and their clinical, EEG, and MRI findings investigated. The Medical Outcomes Study Sleep Scale (MOS-SS) was administered after receiving consent. RESULTS: Thirty-nine of 1401 consecutive patients (2.7%) with pure sleep-related seizures were included. Of these, 30 (76.9%) had epilepsy of unknown cause and 7 had epilepsy with known structural etiologies. Twenty-seven patients reported less than one seizure per month and 19 had been seizure free for at least 1 year. Thirty-four patients participated in our MOS-SS study. Comparison of sleep problems between those with epilepsy and healthy controls and between the subgroups with frequent and rare seizures did not reveal significant differences. CONCLUSION: Patients with pure sleep seizures had mostly undetermined etiology usually with a good prognosis, and this rare condition did not seem to affect their sleep quality.

Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy.

OBJECTIVE: Our aim was to assess the long-term follow-up of juvenile myoclonic epilepsy (JME), with an emphasis on the course of the myoclonic seizures. METHODS: We enrolled 48 patients with JME (29 F, 19 M; aged 39.9 +/- 9.5 years) followed up for a mean of 19.6 +/- 5.7 years. The remission for 5 years and relapses were evaluated for all seizure types and the changes in severity/frequency of myoclonia were systematically questioned. The clinical and EEG features, antiepileptic drug (AED) treatment regimen, and systemic and psychiatric comorbid diseases were evaluated. RESULTS: We found a benign course in 66.6% whereas 16.7% had pseudo-resistance due to problems in treatment or lifestyle. The true-resistant course observed in the remaining 16.7% was significantly associated with psychiatric disorders and the presence of thyroid diseases. In 54.2% of the patients, myoclonia were in remission for a mean duration of 8.4 +/- 7.7 years, after an average age of 32.9 +/- 9.6. Of these patients, 6 were on a lower dose of AED in comparison to the dosage needed to control the seizures in the beginning, and 5 patients had stopped AED treatment. None of the latter 11 patients except one relapsed during the follow-up. Furthermore, 21 other patients (43.8%) described substantial alleviation after age 31.3 +/- 8.4 in the severity of myoclonia. CONCLUSION: Although a great majority of the patients with juvenile myoclonic epilepsy had continuing seizures after a follow-up of 20 years, almost all had either 5-year remission or a substantial alleviation of the myoclonic seizures.

Self-induction behavior in patients with photosensitive and hot water epilepsy: a comparative study from a tertiary epilepsy center in Turkey.

PURPOSE: The goal of this study was to compare self-induction (SI) patterns in photosensitive epilepsy (PSE) and hot water epilepsy (HWE). METHODS: Among 7609 consecutive patients, 129 were diagnosed as having PSE, and 34, HWE. RESULTS: Thirteen patients with PSE (10 females, 3 males, age at onset: 8.6; 3 with mental retardation) and 9 patients with HWE (all males, age at onset: 13.1) reported experiencing SI. During the seizures, a pleasurable feeling was described by all patients with HWE, but only by 3 patients with PSE. Patients with PSE induced their seizures by going very close to the TV screen or by waving their hands and blinking in front of the light sources. In the patients with HWE, seizures were precipitated by increasing the temperature of the water poured over the head or body. CONCLUSIONS: Our results indicate that SI is more frequent in HWE, although this behavior was attributed mostly to PSE in previous studies.

Plexiform neurofibroma during and after pregnancy.

Neurofibromatosis is a genetic disease that affects multiple organ systems, and has a wide range of clinical features. Neurofibromatosis in pregnancy is encountered with a frequency of 1:2434 to 1:18,500 deliveries. Plexiform neurofibromas are rare subcutaneous nodules or amorphous overgrowth of subcutaneous tissues, which may affect the underlying bone, and produce deformities. We present a patient with a giant plexiform neurofibroma of the thigh which got larger in pregnancy, and shrunk a bit in the postpartum period.

Hot water epilepsy: clinical and electrophysiologic findings based on 21 cases.

PURPOSE: Our aim is to outline the clinical and electroencephalographic (EEG) features of patients with hot water epilepsy (HWE), a rare and unique form of reflex epilepsy. METHODS: Twenty-one patients with HWE, seen in our clinic until 1999, were studied. Male outnumbered female subjects in a ratio of 3:1. The age at the onset of seizures ranged from 19 months to 27 years (mean age at onset, 12 years). RESULTS: The main factors precipitating seizures were bathing with hot water and/or pouring water over the head. Six patients reported self-induction, either by increasing the heat or the amount of water and/or recalling earlier bathing experiences. Nine patients expressed feeling pleasure during the seizures. Twenty patients had partial seizures, eight of whom also had secondarily generalized seizures. One patient had apparent generalized seizures only. Spontaneous seizures were present in 62% of the cases. Interictal epileptogenic abnormalities were documented in the EEGs of eight patients; the other eight had normal EEGs. The major sites of epileptogenic activity were over the unilateral temporal regions (in 40% of patients). Neuroimaging studies available for 12 patients (four cranial computed tomography and eight cranial magnetic resonance imaging scans) revealed normal findings. Seizure control in patients who were followed up was achieved by reducing the temperature or the duration of the bath or shower; several of the patients required medication. CONCLUSIONS: The major findings of this study are that HWE has a male preponderance, can be self-induced, is often done for pleasure, has complex triggering factors, and shows temporally located abnormalities in the EEGs. Although HWE is generally known to be self-limited, antiepileptic drug treatment may sometimes be necessary to control seizures. Hot water epilepsy should be classified separately among the epileptic syndromes.