Şenay Haspolat

Interleukin-1α, Interleukin-1β, and Interleukin-1Ra Polymorphisms in Febrile Seizures

Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1β levels in the cerebrospinal fluid of patients with febrile seizures. Recently, an association between a regulatory polymorphism in the genes encoding interleukin-1β and interleukin-1Ra and febrile seizures was reported. In this study, we attempted to confirm these findings. We analyzed the cytokine gene polymorphisms of interleukin-1β, interleukin-1α, and interleukin-1Ra of 73 children with febrile seizure and 152 healthy controls. The distribution of interleukin-1β —511, interleukin-1α —889, and interleukin-1Ra genotypes and alleles did not differ significantly between cases and controls. Our data suggest that the studied gene polymorphisms of interleukin-1β, interleukin-1α, and interleukin-1Ra do not have a significant role in the pathogenesis of febrile seizures. (J Child Neurol 2005;20:565—568).

Case of Bartter Syndrome Presenting With Hypokalemic Periodic Paralysis

Hypokalemic periodic paralysis can occur secondarily to excessive potassium loss. Thyrotoxicosis, diuretic ingestions, hyperaldosteronism, barium poisoning, Gitelman syndrome, and Bartter syndrome are among the disorders causing secondary hypokalemic periodic paralysis. Clinical presentation of Bartter syndrome with hypokalemic periodic paralysis is rare. A 12-year-old boy was admitted to our hospital because of transient paralysis. He had been suffering from transient weakness attacks for 2 years and had had a total of 10 attacks, lasting 1 to 3 days. He had growth retardation, polyuria, and polydipsia. Laboratory examinations revealed hypokalemic alkalosis, normomagnesemia, hypercalciuria, and hyperaldosteronism. The clinical and laboratory findings were in accordance with Bartter syndrome. He has been followed up for 6 months and has suffered no further paralytic attacks under indomethacin therapy. This case highlights the importance of blood pH measurement in patients with hypokalemic periodic paralysis; it might prevent misdiagnosis and mismanagement in such diseases. (J Child Neurol 2006;21:255—256; DOI 10.2310/7010.2006.00049).

The risk of subsequent epilepsy in children with febrile seizure after 5 years of age

PURPOSE Despite their age-dependent definition, febrile seizures (FS) may be observed in people of almost any age. The risk of developing unprovoked seizures after an FS is well defined. However, there are limited data about FS starting or persisting after 5 years of age. In the present study, we evaluated patients who developed FS after 5 years of age. METHOD Between 2010 and 2014, we prospectively enrolled all patients with FS. We collected demographic and clinical features, radiologic images, electroencephalograms (EEGs), and results of psychomotor development tests and treatment data of the patients. The patients were grouped into two groups. Group 1 consisted of patients who had the first FS after 5 years of age, and group 2 consisted of patients in whom FS persisted after 5 years of age. Fishers exact test and Pearsons chi-square test were used to analyse the study data and derive conclusions. RESULTS Sixty-four patients were enrolled, and afebrile seizure was observed in 12 (18.8%) of them. Nine (14%) patients were diagnosed to have epilepsy in their follow-up examination. Subsequent epilepsy occurrence was independent of gender, mean age, medical history of the patient, family history of epilepsy, presence of afebrile seizure, type of seizure, type of FS, duration of seizure, semiology of seizure, peak fever and EEG and magnetic resonance imaging (MRI) findings in our total cohort. There were no statistical differences between the groups with regard to the occurrence of subsequent afebrile seizure or epilepsy (p>0.5). CONCLUSION Close follow-up is important in patients with FS after the age of 5 years. These seizures are generally benign, but tend to recur and increase the risk of development of epilepsy in the patient. Further studies with a larger cohort are warranted to clarify risk factors and incidence of epilepsy in these patients.

RLIP76 Gene Variants are not Associated with Drug Response in Turkish Epilepsy Patients.

RLIP76 Gene Variants are not Associated with Drug Response in Turkish Epilepsy Patients Approximately 30% of epileptic patients remain untreated, in spite of trials with maximum tolerable doses of more than one drug. The RalA binding protein 1 (RALBP1/RLIP76), a multifunctional, anti-apoptotic, multidrug transporter protein, has been proposed as being responsible for the drug resistance mechanism in epilepsy. We have investigated polymorphic differences in the coding regions and exon-intron boundaries of the RLIP76 gene, between 146 refractory and 155 non refractory epileptic patients in Turkey, using denaturing high performance liquid chromatography (HPLC) and sequencing analysis techniques. We have detected the following sequence variants: c.160-4G>A, c.187C>G, c.1562-38G>A, c.1670+107G>A, c.1670+93G>A, c.1670+96G>A, c.1670+100C>T, c.1670+130C>T, c.1670+131G>C, c.1670+140 G>C, and found no statistically significant correlation between allele frequencies and drug response status. We conclude that sequence variants of this gene are not involved in drug resistance in epilepsy.

Tibial nerve axonal excitability in type 1 diabetes mellitus: Axonal Excitability in Diabetes

Introduction: The aim of this study was to determine alterations in axonal excitability in tibial nerve as compared with median nerve axonal excitability in patients with diabetic polyneuropathy. Methods: Six patients with diabetic polyneuropathy and 10 patients with diabetes mellitus without polyneuropathy were enrolled. Results: Compared with diabetic patients without polyneuropathy, the tibial nerve strength–duration time constant was significantly longer and supernormality was lower in those with polyneuropathy. Threshold electrotonus studies showed abnormalities in patients with diabetic polyneuropathy, in which smaller threshold changes from long‐depolarizing and hyperpolarizing conditioning, termed “fanning‐in,” were found. Discussion: This study confirms that axonal excitability is significantly altered in the tibial nerve of patients with diabetic polyneuropathy. Evaluating the axonal excitability of the median and tibial nerves may reveal the presence of length‐dependent polyneuropathy at an early stage. Muscle Nerve 59:76–81, 2019

Negative Myoclonus Due to Topiramate Treatment: A Rare Case Presentation

Epileptic negative myoclonus (ENM) is an unspecific motor disorder that can characterize a variety of neurological conditions. Epileptic negative myoclonus (ENM) is defined as an interruption of tonic muscle activity, which is time-locked to an epileptic EEG abnormality, without evidence of an antecedent positive myoclonia in the agonist–antagonist muscles. Some reports have demonstrated induction or worsening of ENM due to antiepileptic drugs in children suffering from focal epilepsies. Carbamazepine is the drug more frequently involved but other drugs such as oxcarbazepine, phenytoin and lamotrigine have been reported to be able to induce or aggravate ENM. It is well known that antiepileptic drugs may aggravate or precipitate seizures. This paradoxical reaction to a given antiepileptic drug is defined by the presence of increased seizure frequency or the appearance of new seizure types after its administration and full remission following its discontinuation. Here we present an epileptic child who had negative myoclonus after initiation of topiramate treatment.

Central neurogenic hyperventilation related to post-hypoxic thalamic lesion in a child

Central neurogenic hyperventilation (CNH) is a rare clinical condition, whose mechanism is still unclear. Here, we report a 3-year-old male patient, who had bilateral thalamic, putaminal and globus pallideal infarction resulted in CNH without brainstem involvement. This case may illustrate a possible role for the thalamus in regulating ventilation.