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1.
Epilepsia ; 64(9): 2310-2321, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37357418

RESUMO

OBJECTIVE: The present study was aimed at investigating the effects of anti-seizure medications (ASMs), patient demographic characteristics, and the seizure type and frequency on the development of congenital malformations (CMs) in the infants of pregnant women with epilepsy (PWWE). METHODS: PWWE followed up at the neurology outpatient clinic of 21 centers between 2014 and 2019 were included in this prospective study. The follow-up of PWWE was conducted using structured, general pregnant follow-up forms prepared by the Pregnancy and Epilepsy Study Committee. The newborns were examined by a neonatologist after delivery and at 1 and 3 months postpartum. RESULTS: Of the infants of 759 PWWE, 7.2% had CMs, with 5.6% having major CMs. Polytherapy, monotherapy, and no medications were received by 168 (22.1%), 548 (72.2 %), and 43 (5.7 %) patients, respectively. CMs were detected at an incidence of 2.3% in infants of PWWE who did not receive medication, 5.7% in infants of PWWE who received monotherapy, and 13.7% in infants of PWWE who received polytherapy. The risk of malformation was 2.31-fold (95% confidence interval (CI): 1.48-4.61, p < .001) higher in infants of PWWE who received polytherapy. Levetiracetam was the most frequently used seizure medication as monotherapy, with the highest incidence of CMs occurring with valproic acid (VPA) use (8.5%) and the lowest with lamotrigine use (2.1%). The incidence of CMs was 5% at a carbamazepine dose <700 mg, 10% at a carbamazepine dose ≥700 mg, 5.5% at a VPA dose <750 mg, and 14.8% at a VPA dose ≥750 mg. Thus the risk of malformation increased 2.33 times (p = .041) in infants of PWWE receiving high-dose ASMs. SIGNIFICANCE: Birth outcomes of PWWE receiving and not receiving ASMs were evaluated. The risk of CMs occurrence was higher, particularly in infants of PWWE using VPA and receiving polytherapy. The incidence of CMs was found to be lower in infants of PWWE receiving lamotrigine.


Assuntos
Epilepsia , Complicações na Gravidez , Lactente , Humanos , Feminino , Gravidez , Recém-Nascido , Lamotrigina/uso terapêutico , Gestantes , Estudos Prospectivos , Complicações na Gravidez/tratamento farmacológico , Complicações na Gravidez/epidemiologia , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Anticonvulsivantes/efeitos adversos , Carbamazepina/uso terapêutico , Ácido Valproico/uso terapêutico
2.
Turk Neurosurg ; 32(1): 143-148, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34664705

RESUMO

AIM: To discuss seizure outcomes of patients with invasive electroencephalography (EEG) monitorization (IEM) following their epilepsy surgery at our centre. MATERIAL AND METHODS: Forty-seven patients suffering from refractory epilepsy and who were evaluated by invasive EEG were included in this retrospective study at Istanbul Faculty of Medicine from 2003 to 2017. We examined the Video EEG and invasive EEG monitorization, cranial MRI, SPECT, PET and neuropsychological tests of all patients. Postoperative seizure outcome results were evaluated according to Engel classification. The factors affecting seizure outcomes were discussed. RESULTS: Twenty-six of the patients were female (55.3%), 21 were male (44.7). The average age was 32.0 (± 12.4). Forty-three patients had surgery and the average age of these patients was 26,6 (±11.15). 38.3% of the patients had hippocampal sclerosis (HS), 23.4% had focal cortical dysplasia (FCD), 8.5% had a tumor, 14.9% had sequela lesion and 14.9% had unknown etiology. Postoperative seizure status according to the Engel classification showed that 81.6% of the patients were class I, 10.5% were class II, 2.6% were class III and 5.3% were class IV. CONCLUSION: A significant relation was statistically determined between structural MRI lesion and favorable seizure outcome (p < 0.05). The most frequent etiology was HS in our patients. Of the patients with Engel I, the averages of their ages, ages at onset of epilepsy and ages at surgery were lower than other groups, but the difference was not statistically significant (p > 0.05). We argue that IEM is an essential examination for favorable outcomes for determining the epileptogenic zone and/or the proximity of the functional structures.


Assuntos
Epilepsia Resistente a Medicamentos , Adulto , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Convulsões/diagnóstico por imagem , Resultado do Tratamento
3.
Turk Neurosurg ; 31(3): 404-411, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33759167

RESUMO

AIM: To investigate the relationship between clinical features and prognosis of the hippocampal sclerosis (HS) cases and International League Against Epilepsy (ILAE) histopathology classification. MATERIAL AND METHODS: A hundred patients with refractory epilepsy who were operated with the diagnosis of the Mesial Temporal Lobe Epilepsy were included in the study. Socio-demographic characteristics, clinical and family histories, post-operative ILAE and Engel epilepsy scores and diagnostic tests were recorded. At the same time, all of the pathological specimens were classified according to the new semi-quantitative ILAE classification. A significant statistical relationship was investigated between clinical data and HS-ILAE groups. RESULTS: There were 36 male 64 female patients. The mean follow-up period was 6.5 years. 75% of the cases were HS-ILAE type 1, 19% HS-ILAE type 2, 6% were unidentifiable. FCD3A was detected in 3 patients. The HS-ILAE Type 2 ratio was high on the rightsided cases. In addition, HS-ILAE Type 1 ratio was high in patients with early seizure onset and long duration of epilepsy. There was no significant relationship between long-term ILAE and Engel epilepsy outcome scores and HS-ILAE types. CONCLUSION: Resection of mesiotemporal structures in hippocampal sclerosis provides seizure control in at least two-thirds of cases. Histopathological findings may help us understand the epileptogenicity-prognosis of HS. The relationship between ILAE histopathology classification and clinical factors will become more obvious in the future. According to our study, there was a relationship between onset age of epilepsy, epilepsy duration, lesion side and HS-ILAE types. The reinforcement of these relationships with larger series will benefit clinicians.


Assuntos
Epilepsia do Lobo Temporal/patologia , Hipocampo/patologia , Esclerose/patologia , Adolescente , Adulto , Criança , Epilepsia do Lobo Temporal/etiologia , Epilepsia do Lobo Temporal/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Esclerose/complicações , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
4.
Noro Psikiyatr Ars ; 57(3): 204-209, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32952422

RESUMO

INTRODUCTION: The overproduction of the efflux transporters in the blood-brain barrier is considered to play a role in the development of drug resistance in mesial temporal lobe epilepsy (MTLE) patients. The aim of the present study was to investigate the relationship of clinical features of patients with MTLE accompanied by hippocampal sclerosis (HS) and the p-glycoprotein (p-gp) expression and neuronal loss in the hippocampus. METHODS: This study included a total of 33 patients who underwent selective amygdala-hippocampectomy operation. A detailed medical history of each patient, including age, side of HS, sex, age of habitual seizure onset, duration of habitual seizures, type and age of initial precipitating injury, presence and duration of latent period, presence and duration of silent period, monthly seizure frequency within 1 year prior to operation, mean age at the time of operation was evaluated retrospectively. RESULTS: The p-gp expression was significantly higher in the patient group with a seizure frequency of more than 15 days per month and a disease duration of more than 20 years. There was no significant difference between the p-gp expression and the clinical features of the MTLE-HS patients. CONCLUSION: These results suggest that p-gp expression is affected by disease duration and seizure frequency rather than a patient's clinical and pathological properties. In patients with HS-MTLE, potential use of the p-gp inhibitors as additional therapy and developing novel drugs not carried by multidrug carriers expressed in blood-brain barrier should be regarded as the new treatment targets.

5.
Ideggyogy Sz ; 73(1-2): 65-69, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-32057207

RESUMO

Marchiafava-Bignami disease (MBD) is a rare alcohol-associated disorder characterized by demyelination and necrosis of the corpus callosum. We report three patients who had history of chronic alcoholism, different clinical presentation and MRI findings consistent with the diagnosis of Marchiafava-Bignami disease.


Assuntos
Alcoolismo , Doença de Marchiafava-Bignami , Alcoolismo/complicações , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Humanos , Imageamento por Ressonância Magnética , Doença de Marchiafava-Bignami/complicações , Doença de Marchiafava-Bignami/diagnóstico por imagem , Necrose
6.
Ideggyogy Sz ; 72(3-4): 131-133, 2019 Mar 30.
Artigo em Húngaro | MEDLINE | ID: mdl-30957468

RESUMO

Sturge Weber syndrome is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. Three distinct types were identified. Type 3 with leptomeningeal involvement alone is the rarest among other types. The reported case is a 21-years-old female patient without any known chronic disease. She admitted to the emergency department after visual symptoms and headache, followed by generalized tonic clonic seizure. EEG of the patient showed left occipital seizure activity. The contrast enhanced magnetic resonance imaging (MRI) showed left occipital leptomeningeal angioma. Digital substraction angiography (DSA) revealed minimal blushed contrast enhancement on late venous phase and lack of superficial cortical veins. Her focal seizures were under control with levatiracetam and lacosamide treatment. The reported case is unique because of the late onset presentation with focal seizure without mental retardation.


Assuntos
Epilepsia/etiologia , Convulsões/etiologia , Síndrome de Sturge-Weber , Esclerose Tuberosa , Feminino , Humanos , Imageamento por Ressonância Magnética , Adulto Jovem
7.
J Neurosci Rural Pract ; 10(2): 267-272, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31001016

RESUMO

CONTEXT: Seizures and accompanying situations including social, medical, and psychiatric problems threaten the quality of life (QOL) in patients with epilepsy. The World Health Organization defines health is a state of complete physical, mental, and social well-being, and not merely the absence of disease or infirmity. AIMS: This study examines the prevalence of both depression and anxiety symptoms and also impact of the affective state on QOL in patients with focal epilepsy in Turkey. SETTINGS AND DESIGN: One hundred and five patients with focal epilepsy over 18 years old were included in this study. The patients were classified into four groups according to the presence of AS and seizure control. SUBJECTS AND METHODS: Patients' affective symptoms (AS) and QOL were examined using the Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and QOL in Epilepsy Inventory-31 (QOLIE-31). STATISTICAL ANALYSIS USED: We used descriptive statistics, Chi-square test, independent samples t-test, one-way analysis of variance, Mann-Whitney U-test, Kruskal-Wallis H-test, and also Pearson's and Spearman's correlation test for correlations. RESULTS: There were positive correlations between total QOLIE-31 score and epilepsy surgery, employment, and seizure freedom, whereas negative correlations were found with antiepileptic drug use, anxiety, and depression. Statistically significant differences were found in QOLIE-31 totals and subscores between Groups 3 and 4 (P < 0.05). CONCLUSIONS: The presence of AS has a negative impact on QOL in patients with focal epilepsy. Physicians should be aware that psychiatric comorbidities in epilepsy have a severe impact and epilepsy treatment requires comprehensive management.

8.
J Neurointerv Surg ; 11(5): 455-459, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30262656

RESUMO

BACKGROUND: Tigertriever (Rapid Medical, Yoqneam, Israel) is a new design of stent retriever. PURPOSE: To evaluate the feasibility, safety, and efficacy of the Tigertriever in patients with acute ischemic stroke who have undergone mechanical thrombectomy. MATERIALS AND METHODS: Two different techniques-namely, standard unsheathing (SUT) and repetitive inflation-deflation (RID) techniques, were used. Modified Thrombolysis in Cerebral Infarction (mTICI) scores of 2b and 3 were considered as successful recanalization. RESULTS: A total of 61 thrombectomy procedures with Tigertriever were retrospectively evaluated. The mean age of patients was 60.7 years and their National Institutes of Health Stroke Scale score was 14.7. Overall, the percentage of patients with a mTICI score of 0, 2b, and 3 was 24.6, 26.2, and 49.2, respectively. Successful recanalization and first-pass success rates were 75.4% and 37.7%, respectively. There were no statistical differences between the results of the SUT and RID techniques. No vessel rupture, dissection, or device detachment was observed. The number of patients with a good clinical outcome (modified Rankin Scale score 0-2) was 17 (27.9%). CONCLUSION: Our results showed that the Tigertriever device is safe and efficient for mechanical thrombectomy.


Assuntos
Arteriopatias Oclusivas/cirurgia , Isquemia Encefálica/cirurgia , Artérias Cerebrais/cirurgia , Stents , Acidente Vascular Cerebral/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Trombectomia , Resultado do Tratamento
9.
Ideggyogy Sz ; 71(1-02): 43-48, 2018 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-29465899

RESUMO

BACKGROUND AND PURPOSE: Epilepsy with photosensitivity (PSE) is one of the reflex epilepsy types with pathophysiology still unexplained. In our study we aimed to evaluate the clinical, electroencephalogram (EEG) and prognosis of patients with PSE diagnosis. METHODS: A total of 44 patients with PSE diagnosis according to international classification were included in this retrospective and cross-sectional study. The age, gender, syndrome, clinical and EEG characteristics of patients, and treatment response were investigated. RESULTS: The mean age was 22.09±6.49 years for 28 females and 16 males included in the study. Of patients, 17 had idiopathic photosensitive occipital lobe epilepsy (IPOLE), 11 had juvenile myoclonic epilepsy (JME), 11 had other PSE and 5 had juvenile absence epilepsy (JAE), with the most common visual trigger factors television and sunlight. In terms of seizure type, the most common was generalized tonic clonic seizure (GTCS), with myoclonus, absence and other seizure types observed. There was family history present in 17 patients and valproic acid was most commonly used for treatment. CONCLUSION: As noted in the literature, our data show that PSE has defined age group and clinical presentation, good prognosis but requires correct choice of medication for treatment. It is thought that good description of these epilepsy types will reduce misdiagnosis and mistreatment rates.


Assuntos
Epilepsia Reflexa , Epilepsia Mioclônica Juvenil , Adolescente , Adulto , Estudos Transversais , Eletroencefalografia , Epilepsia Reflexa/diagnóstico , Epilepsia Reflexa/terapia , Feminino , Humanos , Masculino , Epilepsia Mioclônica Juvenil/diagnóstico , Epilepsia Mioclônica Juvenil/terapia , Prognóstico , Estudos Retrospectivos , Adulto Jovem
10.
Noro Psikiyatr Ars ; 54(1): 43-48, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28566958

RESUMO

INTRODUCTION: The aim of the present study was to evaluate the neuropsychological outcomes of patients with medically intractable unilateral mesial temporal lobe epilepsy (MTLE) due to hippocampal sclerosis (HS) treated either by anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SAH). METHODS: This was a retrospective study where 67 patients who had undergone surgery for MTLE were evaluated. Thirty-two patients underwent ATL and 35 underwent SAH. All patients underwent a detailed neuropsychological evaluation before and 1 year after surgery. RESULTS: The verbal memory outcome was unchanged after left-sided surgery, whereas learning capacity increased after right-sided surgery (p=0.038). The visual memory outcome improved after right-sided surgery. Improvement of executive functions, particularly in the resistance of interference pattern in the Stroop Test, shortened 5th card time (p=0.000), and decreased corrections (p=0.003), after right-sided surgery and increased attention (p=0.027) after left-sided surgery were observed. After both surgery types, although statistically insignificant, there was a marked decrease in incorrect answers in the Stroop Test, which also showed an improvement in the resistance of interference pattern. Moreover, there was a significant decrease in switching errors with word pairs in the Verbal Fluency Test (p=0.008) after right-sided surgery. When the two sides were compared, we observed that the recall phase of the verbal memory worsened (p=0.018); however, the recognition phase improved (p=0.015) after left-sided surgery. Additionally, the short-term visual memory was better for both sides (p=0.035). CONCLUSION: Our results showed that patients with left MTLE were not worsened in verbal memory, but despite improved recognition, they have some problems in recalling information and only a minor improvement in attention. Patients with right MTLE improved in their verbal learning capacity, visual memory, and resistance of interference pattern 1 year after surgery. It was thus shown that while epilepsy surgery is associated with some negative cognitive changes, it may also improve some cognitive functions.

11.
Ideggyogy Sz ; 70(9-10): 355-357, 2017 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-29870628

RESUMO

SUNCT syndrome, a rare form of primary headaches, may be secondary to pituitary tumours. The secondary forms usually related with prolactinomas. The response of dopamin agonists could be variable. In this study, we reported a case of SUNCT syndrome secondary to prolactinoma. Cranial magnetic resonance imaging was performed for this patient because of the increase in pain severity and frequency. A hemorrhage was detected into the prolactinoma ipsilateral to the pain. The headache attacks were taken undercontrol and remission was ensured with cabergoline in a short time.


Assuntos
Prolactinoma/complicações , Prolactinoma/diagnóstico , Síndrome SUNCT/diagnóstico , Síndrome SUNCT/etiologia , Encéfalo/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/tratamento farmacológico , Hemorragia Cerebral/etiologia , Humanos , Prolactinoma/tratamento farmacológico , Síndrome SUNCT/tratamento farmacológico
12.
Ideggyogy Sz ; 70(11-12): 429-432, 2017 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-29870652

RESUMO

Background - Metronidazole is a synthetic antibiotic, which has been commonly used for protozoal and anaerobic infections. It rarely causes dose - and duration - unrelated reversible neurotoxicity. It can induce hyperintense T2/FLAIR MRI lesions in several areas of the brain. Although the clinical status is catastrophic, it is completely reversible after discontinuation of the medicine. Case report - 36-year-old female patient who had recent brain abscess history was under treatment of metronidazole for 40 days. She admitted to Emergency Department with newly onset myalgia, nausea, vomiting, blurred vision and cerebellar signs. She had nystagmus in all directions of gaze, ataxia and incompetence in tandem walk. Bilateral hyperintense lesions in splenium of corpus callosum, mesencephalon and dentate nuclei were detected in T2/FLAIR MRI. Although lumbar puncture analysis was normal, her lesions were thought to be related to activation of the brain abscess and metronidazole was started to be given by intravenous way instead of oral. As lesions got bigger and clinical status got worse, metronidazole was stopped. After discontinuation of metronidazole, we detected a dramatic improvement in patient's clinical status and MRI lesions reduced. Conclusion - Although metronidazole induced neurotoxicity is a very rare complication of the treatment, clinicians should be aware of this entity because its adverse effects are completely reversible after discontinuation of the treatment.


Assuntos
Antibacterianos/toxicidade , Encéfalo/efeitos dos fármacos , Encéfalo/diagnóstico por imagem , Metronidazol/toxicidade , Adulto , Antibacterianos/uso terapêutico , Abscesso Encefálico/diagnóstico por imagem , Abscesso Encefálico/tratamento farmacológico , Feminino , Humanos , Metronidazol/uso terapêutico
13.
J Neurosurg Sci ; 60(2): 159-68, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27150541

RESUMO

BACKGROUND: Surgery is apparently superior to prolonged medical therapy in therapy of efficacy and safety for mesial temporal lobe epilepsies. We ­ as a new center ­ presented outcome results and possible outcome predictors of 50 consecutive patients with hippocampal sclerosis underwent resective epilepsy surgery. METHODS: Between 2006 and 2011, fifty patients with intractable mesial temporal lobe epilepsy due to hippocampal sclerosis underwent anterior temporal lobectomy and they were followed-up at least 1 year postoperatively. Detailed neuropsychological tests, video-electroencephalography monitoring and magnetic resonance imaging with epilepsy protocol were obtained for all patients. Standard anteromedial temporal lobectomy was performed. Modified Engel and ILAE classifications were used for seizure outcome. All morbidities were recorded. Demographic variables, diagnostic tests and early postoperative outcome were analyzed for possible predictors of the ultimate seizure outcome. RESULTS: Fifty patients were evaluated. The mean follow-up duration was 47,1 month (range, 12-75 months). The favorable outcome at 1 year was 90% and 82% according to Engel and ILAE classifications respectively. These rates were almost same at the end of follow-up period (92% and 82% respectively). The completely seizure free rate at one year was 80% and decreased to 68% at the end of the follow-up. There was no mortality. Morbidity rate was 10% and none of them was permanent. Triple concordance of the noninvasive tests (neuropsychological tests, video- electroencephalography monitoring and magnetic resonance imaging) and favorable seizure outcome at the first year were predictors of the ultimate seizure outcome (P=0.01 and P=0.04 respectively). CONCLUSIONS: Our findings demonstrated that anteromedial temporal lobectomy is a safe and effective treatment method in well-chosen patients with hippocampal sclerosis. This surgical procedure can be performed with a low rate of morbidity even in relatively new epilepsy surgery center.


Assuntos
Lobectomia Temporal Anterior , Epilepsia/cirurgia , Hipocampo/cirurgia , Esclerose/cirurgia , Adolescente , Adulto , Lobectomia Temporal Anterior/métodos , Criança , Epilepsia/diagnóstico , Epilepsia/etiologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Esclerose/complicações , Esclerose/diagnóstico , Resultado do Tratamento , Adulto Jovem
14.
Ideggyogy Sz ; 67(5-6): 201-4, 2014 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-25087380

RESUMO

UNLABELLED: Migraine is a common health problem affecting women more commonly. It has been associated with an increased risk for cardiovascular events. In this study, we investigated whether aortic elastic properties is altered in migraineurs with low cardiovascular risk compared with healthy controls, in order to elicit further evidence on tentative association between migraine and increased risk of cardiovascular disease. METHODS: Forty-three migraine patients with low CVD risk were enrolled to the study. Thirty-three volunteers, with a similar age and sex distribution served as a control group. Following parameters of the aortic elasticity were calculated: aortic strain, aortic stiffness (beta) index and aortic distensibility. RESULTS: Aortic strain was not statistically different between the study and control group. However, aortic distensibility and beta index were significantly impaired in patients with migraine compared to control subjects DISCUSSION: The elastic properties of the aorta in migreineurs may be different from normal by using easily available echocardiographic methods. This information may be a clue for clarification of cardiovascular system involvement in migraine.


Assuntos
Aorta/fisiopatologia , Doenças Cardiovasculares/complicações , Elasticidade , Transtornos de Enxaqueca/complicações , Adulto , Aorta/diagnóstico por imagem , Pressão Sanguínea , Doenças Cardiovasculares/fisiopatologia , Ecocardiografia , Feminino , Humanos , Transtornos de Enxaqueca/fisiopatologia
15.
Epilepsia ; 52(5): 975-83, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21320115

RESUMO

PURPOSE: To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls. METHODS: Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing. KEY FINDINGS: An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (JAE) syndrome and patients having generalized tonic-clonic seizures (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons). DNA sequence analysis of the INHA gene in 110 JAE/GTCS patients revealed three point mutations with possible damaging effects on inhibin function in three patients and the presence of a common ACTC haplotype (H1) with a possible dominant protective role conferred by the T allele of rs7588807 with respective p-values of 0.0005 and 0.0014. SIGNIFICANCE: The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.


Assuntos
Epilepsia Tipo Ausência/genética , Epilepsia Tônico-Clônica/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Haplótipos/genética , Inibinas/genética , Convulsões/genética , Animais , Estudos de Casos e Controles , Cromossomos Humanos Par 2/genética , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único/genética , Ratos
16.
Turk Neurosurg ; 18(4): 374-9, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19107683

RESUMO

OBJECTIVES: Temporal lobe epilepsy is the most common form of intractable partial epilepsy in adults with hippocampal sclerosis accounting for the majority of cases. Selective amygdalo-hippocampectomy (SEAH) is suggested as a safe and effective surgical procedure with the advantage of a better cognitive outcome. METHODS: We prospectively documented 56 consecutive patients with medically refractory medial temporal lob epilepsy. Candidates for surgery were determined as those with characteristic clinical and imaging findings, ictal recordings, and neuropsychological evaluation. A standard SEAH was performed and hippocampal sclerosis was histologically confirmed. RESULTS: In our study 76.7% of patients were classified as Engel I and 62.2% as ILAE I at their last follow up. Overall, at the last follow-up, 51.8% of patients were seizure-free since surgery (Engel 1a and ILAE 1a), 25% had stopped antiepileptic treatment, and another 52% had decreased either the dosage or number of antiepileptic drugs. 86.3% of the patients with abnormality on neurocognitive tasks showed improvement at the end of the 6 months post surgery. CONCLUSION: SEAH is a safe and effective surgical procedure without the necessity of a larger resection and further invasive methods.


Assuntos
Tonsila do Cerebelo/cirurgia , Hipocampo/patologia , Hipocampo/cirurgia , Procedimentos Neurocirúrgicos , Adolescente , Adulto , Criança , Cognição/fisiologia , Resistência a Medicamentos , Eletrofisiologia , Epilepsia do Lobo Temporal/etiologia , Epilepsia do Lobo Temporal/cirurgia , Feminino , Humanos , Testes de Inteligência , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/psicologia , Estudos Prospectivos , Recidiva , Esclerose , Convulsões/etiologia , Resultado do Tratamento , Adulto Jovem
17.
Epileptic Disord ; 10(2): 173-6, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18539572

RESUMO

Simple ictal or interictal automatisms are commonly seen in epilepsy, whereas complex automatisms are rare. Simple ictal vocalizations or appendicular automatisms have been reported to be due to mesial temporal lobe epilepsy. However, seizure-associated singing and dancing is very rare. We report a seventeen-year-old patient with ictal singing and rhythmic swinging of the arms as a dancing gesture. The video-EEG recording showed ictal left temporal lateralization and neuropathology confirmed left mesial temporal sclerosis.


Assuntos
Automatismo/etiologia , Automatismo/psicologia , Epilepsia do Lobo Temporal/psicologia , Música , Convulsões/psicologia , Lobo Temporal/patologia , Adolescente , Comportamento/fisiologia , Dança , Eletroencefalografia , Epilepsia do Lobo Temporal/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Esclerose
18.
Eur Neurol ; 59(1-2): 67-70, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-17917461

RESUMO

BACKGROUND AND AIMS: We investigated the prevalence of this multidrug resistance 1 gene (MDR1) polymorphism in drug-responsive versus drug-resistant epilepsy patients treated with carbamazepine (CBZ), which is a substrate of this protein. METHODS: We genotyped the C3435T variant of MDR1 in 97 patients treated with CBZ monotherapy who had been on stable doses for more than 1 month. Our control group included 174 healthy individuals. Plasma CBZ concentrations were also measured using fluorescence polarization immunoassay. RESULTS: We could not demonstrate any statistically significant relationship with the genotypes among drug-resistant patients (n = 44). The frequency of the homozygous mutant (TT) genotype was 15% in drug-responsive patients, 11.3% in drug-resistant patients and 25.8% in the control group. We also did not observe any significant correlation between the presence of a specific allele and CBZ plasma level/dose index. CONCLUSION: Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey.


Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Resistência a Medicamentos/genética , Epilepsia/genética , Polimorfismo Genético/genética , Subfamília B de Transportador de Cassetes de Ligação de ATP , Adulto , Anticonvulsivantes/sangue , Anticonvulsivantes/uso terapêutico , Carbamazepina/sangue , Carbamazepina/uso terapêutico , Epilepsia/tratamento farmacológico , Feminino , Imunoensaio de Fluorescência por Polarização/métodos , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Turquia
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