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Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Neurology / Turk Noroloji Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Status epilepticus is a neurological emergency feature with a risk of high mortality and morbidity which requires immediate intervention. Many of the medications used in standard treatment have systemic side effects. Levetiracetam (LEV) is one of the new antiepileptic agents which are not metabolized through the liver and have minimal drug interaction. Positive outcomes with intravenous (IV) form of LEV on patients with refractory seizures and status have been reported. Methods: In this study, we evaluated 12 patients with status epilepticus between the ages 23 and 78 who were administrated IV LEV in the emergency department of Neurology, retrospectively. Patients were classified according to the clinical characteristics of their seizures and IV LEV was given to patients who did not respond to intravenous diazepam in the dose range 1000-2000 mg. Results: It has been observed that patients with systemic problems who were admitted to the Neurology service did not respond very well to IV LEV treatment whereas the patients on antiepileptic drugs who were referred to the emergency department benefited significantly from LEV. Conclusions: Although our study involves a limited number of patients on whom effects IV LEV were examined, our results concur with previous reports similarly small number of cases in the literature. The first study of its kind in Turkey, we would like to contribute to literature with our experience of IV LEV in status epilepticus. [ABSTRACT FROM AUTHOR]

Copyright of Archives of Neuropsychiatry / Nöropsikiyatri Arşivi is the property of Turkish Association of Neuropsychiatry and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Our aim was to determine the clinical accompaniments of the amphiphysin autoimmunity in the Turkish population. Patients and Methods: Sera of 6 patients with a subacute neurological presentation were selected because of their immunoreactivity pattern suggestive of amphiphysin-antibodies. Amphiphysin-antibody positivity was confirmed by immunoblots containing recombinant amphiphysin protein. Results: Two patients had limbic encephalitis, 1 myelopathy and 3 neuropathy. Breast, lung and endometrium cancers were detected in one patient each. Two patients had metastasis (of a bladder cancer and an unknown tumor) and no tumors could be found in one patient. Most or all patients exhibited normal imaging and cerebrospinal fluid (CSF) findings and poor response to immunosuppression. None of the patients' sera contained antibodies to other intracellular paraneoplastic antigens. Conclusions: Our cohort differs from the previously reported ones by reduced frequency of abnormal CSF findings, absence of other coexisting paraneoplastic antibodies and presence of tumor types that have not been previously associated with amphiphysin autoimmunity. [ABSTRACT FROM AUTHOR]

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. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Purpose Epilepsy is one of the most stigmatizing medical conditions. The purpose of this study was to examine the perception of stigma and factors associated with stigma. Material and methods This descriptive cross-sectional study was carried out among patients attending an epilepsy outpatient clinic of a university hospital between February and October 2014. One hundred ninety-four patients who were over 18 years of age, who were able to communicate, and who had a diagnosis of definite epilepsy constituted the study sample. Patients seizure-free for two years were excluded from the group. Three-item Jacoby's Stigma Scale was used to determine level of stigma, and Social Support Scale, Generalized Self-efficacy Scale, Epilepsy Knowledge Scale, and Epilepsy Attitude Scale were used to examine factors associated with stigma. Results In total, 66 (34%) out of 194 subjects reported feeling stigmatized, with almost half of them (n = 31) feeling highly stigmatized. Education, income, age at onset, seizure frequency in previous year, social support, and knowledge and attitudes towards epilepsy were significant factors determining scores on the stigma scale. It was also determined that stigma was associated with seeking help from mystics, disclosure of the diagnosis, and self-efficacy. Conclusion This study confirms the findings of previous studies that have identified the importance of both clinical and nonclinical factors in understanding the stigma of epilepsy. Findings support the need for social support, knowledge, and awareness to decrease the stigma associated with epilepsy. [ABSTRACT FROM AUTHOR]

Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is generally accepted as having a homogenous clinical course with no considerable differences between EPM2A or NHLRC1 associated forms. Nevertheless, late-onset and slow progressing forms of the disease have also been reported. Herein, we have performed clinical and genetic analyses of 14 LD patients from 12 different families and identified 8 distinct biallelic variations in these patients. Five of these variations were novel and/or associated with the LD phenotype for the first time. Interestingly, almost half of the cases were homozygous for the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in NHLRC1. A less severe phenotype with an onset at a later age may be the reason for the biased inflation of this variant, which is already present in the human gene pool and can hence arise in the homozygous form in populations with increased parental consanguinity., (© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)

Objective: Frontal lobe epilepsy (FLE) is the second most common epilepsy among drug-resistant focal epilepsies. Semiologic and electrophysiologic features of FLE present some difficulties because frontal lobe seizures are brief, accompanied by complex motor activities and emotional signs. The rich connectivity of the frontal lobe with other areas leads to the rapid and widespread propagation of seizure activity, which contribute to the difficulty of evaluating the semiologic and EEG patterns of the seizure. In this study, we investigated semiologic, interictal, ictal, and postictal EEG characteristics; the imaging data of patients with FLE and the possible contribution of these data to localization and lateralization of seizures., Materials and Methods: The medical records of patients who were diagnosed as having FLE between 2010 and 2019 in our clinic were evaluated retrospectively. The diagnosis of FLE was considered either when patients had a structural lesion in the frontal region or seizure semiology and EEG characteristics were compatible with FLE. Clinical, electrophysiologic, and imaging features were investigated in these patients., Results: We have evaluated 146 seizures in 36 patients (17 lesional and 19 non-lesional according to MRI). There were 110 focal motor or nonmotor seizures, 18 bilateral tonic-clonic seizures, and 18 subclinical seizures. There were 16 patients with aura. The most common semiologic feature was hyperkinetic movements. Among the interictal EEGs, 30.5 % included focal anomalies. Among the ictal EEGs, 69.1 % were non-localizing or lateralizing. The most common ictal pattern was rhythmic theta activity (21.2 %). In four patients, who had non-localizing or lateralizing EEG, the postictal EEG was informative. Our study showed a low percentage of localized FDG-PET, which, however, involved visual analysis., Conclusion: Our results support the previously known difficulties in the determination of the epileptogenic zone of FLE. Semiologic and electrophysiologic correlation studies, longer postictal records, and quantitative analysis of FDG-PET may contribute to a better characterization of the disease., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Objectives: Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals. The aim of this study was to determine the lateralizing and localizing value and associated clinical characteristics of GAs., Methods: Three hundred thirteen consecutive patients with drug-resistant seizures who were referred to our tertiary center for presurgical evaluation between 2009 and 2016 were investigated. The incidence of specific kinds of behavior, clinical semiology, associated symptoms/signs with corresponding ictal electroencephalography (EEG) findings, and their potential role in seizure localization and lateralization were evaluated., Results: Fifteen (4.8%) of 313 patients had GAs. Genital automatisms were identified in 19 (16.4%) of a total 116 seizures. Genital automatisms were observed to occur more often in men than in women (M/F: 10/5). Nine of fifteen patients (60%) had temporal lobe epilepsy (right/left: 4/5) and three (20%) had frontal lobe epilepsy (right/left: 1/2), whereas the remaining two patients could not be classified. One patient was diagnosed as having Rasmussen encephalitis. Genital automatisms were ipsilateral to epileptic focus in 12 patients and contralateral in only one patient according to ictal-interictal EEG and neuroimaging findings. Epileptic focus could not be lateralized in the last 2 patients. Genital automatisms were associated with unilateral hand automatisms such as postictal nose wiping or manual automatisms in 13 (86.7%) of 15 and contralateral dystonia was seen in 6 patients. All patients had amnesia of the performance of GAs., Conclusion: Genital automatisms are more frequent in seizures originating from the temporal lobe, and they can also be seen in frontal lobe seizures. Genital automatisms seem to have a high lateralizing value to the ipsilateral hemisphere and are mostly concordant with other unilateral hand automatisms. Men exhibit GAs more often than women., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is an autosomal dominant epileptic syndrome characterized by focal seizures with auditory or aphasic symptoms. The same phenotype is also observed in a sporadic form of lateral temporal lobe epilepsy (LTLE), namely idiopathic partial epilepsy with auditory features (IPEAF). Heterozygous mutations in LGI1 account for up to 50% of ADLTE families and only rarely observed in IPEAF cases. In this study, we analysed a cohort of 26 individuals with LTLE diagnosed according to the following criteria: focal epilepsy with auditory aura and absence of cerebral lesions on brain MRI. All patients underwent clinical, neuroradiological and electroencephalography examinations and afterwards they were screened for mutations in LGI1 gene. The single LGI1 mutation identified in this study is a novel missense variant (NM_005097.2: c.1013T>C; p.Phe338Ser) observed de novo in a sporadic patient. This is the first study involving clinical analysis of a LTLE cohort from Turkey and genetic contribution of LGI1 to ADLTE phenotype. Identification of rare LGI1 gene mutations in sporadic cases supports diagnosis as ADTLE and draws attention to potential familial clustering of ADTLE in suggestive generations, which is especially important for genetic counselling., (Copyright © 2015 Elsevier B.V. All rights reserved.)

A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further to identify compound heterozygosity. Herein, we report identification of two paternally inherited genetic variants in SCN1A (rs121917918; p.R101Q and p.I1576T), one of which was previously implicated in Dravet syndrome. Interestingly, the previously reported clinical variant (rs121917918; p.R101Q) displayed mosaicism in the blood and saliva of the father. The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene. This finding is important given that heterozygous variants may be overlooked in standard exome scans of consanguineous families. Thus, we are presenting an interesting example, where the inheritance of the condition may be misinterpreted as recessive and identical by descent due to consanguinity and mosaicism in one of the parents., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Purpose: The study describes the clinical features of an inbred family from Turkey with three members affected by seizures and tests possible autosomal recessive (AR) inheritance by means of linkage analysis., Methods: Personal and family history was obtained from each subject, and general physical, neurologic, and EEG examinations were performed. A set of 382 fluorescence-labeled markers was used for the initial genome-wide search. A further set of 83 markers was used to map the locus precisely and to exclude the remaining genome., Results: Twelve individuals from three generations were examined. Two subjects were affected by idiopathic epilepsy, whereas, their brother experienced a single unprovoked generalized seizure. Two siblings affected by idiopathic epilepsy and their unaffected sister showed a photoparoxysmal response to photic stimulation. Nine family members reported migraine. The genome-wide search led to the identification of a unique homozygous, 15.1-cM region shared by subjects with seizures on chromosome 9q32-33 and providing a lod score of 2.9. This locus, however, was not associated with migraine in this pedigree., Conclusions: The study suggests that idiopathic epileptic traits with AR inheritance might be underestimated in the general population and that inbred pedigrees may represent powerful tools for the identification of AR genes.