ABSTRACT
The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were conscious and had abnormal posture of unilateral or bilateral extremities, athetosis, facial muscle twitching, and abnormal body posture. The frequency of onset ranged from 3-5 times a month to 2-7 times a day, with a duration of <30 seconds every time. Electroencephalography showed no abnormality in these patients. Three patients had a family history of similar disease. The high-throughput sequencing results showed that a heterozygous mutation in the PRRT2 gene, c.649_650insC (p.R217PfsX8), was found in two patients; the mutation c.436C>T (p.P146S) was found in one patient; a splice site mutation, IVS2-1G>A, was found in one patient. The two mutations c.436C>T and IVS2-1G>A had not been reported previously. The chromosome microarray analysis was performed in one patient with negative results of gene detection, and the chromosome 16p11.2 deletion (0.55 Mb) was observed. Low-dose carbamazepine was effective for treatment of the 5 patients. PKD is a rare neurological disease. The detection of the PRRT2 gene by multiple genetic analysis can help the early diagnosis of PKD.
Subject(s)
Child , Female , Humans , Male , Carbamazepine , Therapeutic Uses , Chromosome Deletion , Chromosomes, Human, Pair 16 , Dystonia , Diagnosis , Drug Therapy , Genetics , Electroencephalography , Membrane Proteins , Genetics , Mutation , Nerve Tissue Proteins , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the dynamic changes of lipoprotein lipase (LPL) expression in the hippocampus of epileptic rats and to study its effect on vitamin E levels in rats following status epilepticus (SE).</p><p><b>METHODS</b>Rat model of SE was induced by intraperitoneal injection of pilocarpine. The rats receiving an injection of normal saline were used as a control group. The expression of LPL in the hippocampal tissue was determined using immunofluorescent methods and the level of vitamin E was examined by the colormeric method 12 hrs, 24 hrs, 3 days, 7 days and 14 days after SE.</p><p><b>RESULTS</b>LPL was expressed in the control and SE groups. In the SE group, the LPL expression began to increase 24 hr after SE (P<0.05), reached a peak 3 days after SE (P<0.01), and kept at a high level 7 days after SE (P<0.01). By 14 days, the LPL expression was reduced to the level similar to the control group. The level of vitamin E began to decline 12 hrs after SE (P<0.01), and decreased to a nadir 24 hrs after SE (P<0.01). At 3 and 7 days after SE, the levels of vitamin E were still significantly lower than the controls (P<0.05). By 14 days, the vitamin E level increased to the level similar to the control group.</p><p><b>CONCLUSIONS</b>The over-expression of LPL in the hippocampus may play an important role in the oxidative stress mechanisms following SE by regulating the uptake of vitamin E.</p>
Subject(s)
Animals , Male , Rats , Fluorescent Antibody Technique , Hippocampus , Metabolism , Lipoprotein Lipase , Physiology , Oxidative Stress , Rats, Sprague-Dawley , Status Epilepticus , Metabolism , Vitamin E , MetabolismABSTRACT
<p><b>OBJECTIVE</b>To study serum levels of melatonin in children with epilepsy or febrile seizures in order to provide a basis for the treatment of epilepsy or febrile seizures with melatonin.</p><p><b>METHODS</b>Serum melatonin levels were measured using ELISA in 15 children with simple febrile seizure (SFS), in 15 children with complex febrile seizure (CFS), in 15 children with epilepsy, and in 15 children with upper respiratory infections (control group).</p><p><b>RESULTS</b>Serum melatonin levels in children with epilepsy (8.66+/-1.38 ng/L) or CFS (14.91+/-2.61 ng/L) were significant lower than those in the control group (23.93+/-2.01 ng/L) (P<0.01). The SFS group showed lower serum melatonin levels (20.72+/-2.54 ng/L) compared with the control group, but there were no statistical differences between the two groups. Serum melatonin levels in the epilepsy group were significantly lower than those in the CFS (P<0.05) and the SFS groups (P<0.01).</p><p><b>CONCLUSIONS</b>Serum melatonin levels decreased in children with epilepsy or CFS. Supplement of exogenous melatonin might be a promising treatment for epilepsy and febrile seizures in children.</p>