The purpose of this study was to investigate the possible association between childhood epilepsy and KCNJ10 gene polymorphisms (rs61822012 and rs2486253). A total of 200 epileptic cases and 200 healthy controls enrolled to this study. Genomic DNAs from the patients and control cases were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism methods. There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). T allele was also increased in patients with generalized tonic-clonic seizures (P = .0158). However, no statistically significant association was found between rs61822012 polymorphism and epilepsy. Our data suggest that G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy. The T allele of this polymorphism was found to be a seizure-susceptibility allele for tonic-clonic epilepsy.
Nonepileptic events are common in children, and may be difficult to distinguish from epileptic events. Hyperekplexia is a rare nonepileptic event characterized by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalized muscular rigidity, and nocturnal myoclonus. In most instances, the clinical history and an age-based approach leads to the diagnosis, and ancillary testing serves as confirmation. A 10-year-old girl was referred to our department with the complaint of seizure and cranial trauma. Her physical examination revealed that tactile stimuli yielded myoclonic jerks. HE was entertained in view of the clinical and laboratory findings. The symptoms almost fully resolved after clonazepam in the followup. This case emphasizes that nonepileptic events should be considered in the differential diagnosis of convulsions. Keywords: Nonepileptic event, hiperekplexia, child
Nonepileptic events are common in children, and may be difficult to distinguish from epileptic events. Hyperekplexia is a rare nonepileptic event characterized by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalized muscular rigidity, and nocturnal myoclonus. In most instances, the clinical history and an age-based approach leads to the diagnosis, and ancillary testing serves as confirmation. A 10-year-old girl was referred to our department with the complaint of seizure and cranial trauma. Her physical examination revealed that tactile stimuli yielded myoclonic jerks. HE was entertained in view of the clinical and laboratory findings. The symptoms almost fully resolved after clonazepam in the followup. This case emphasizes that nonepileptic events should be considered in the differential diagnosis of convulsions.
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