[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].

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.

[Lipoprotein lipase expression in the hippocampus and its effects on vitamin E levels in rats with epilepsy].

OBJECTIVE: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

The Protective Effect of Breastfeeding on Febrile Seizures: A Case-Control Study.

Objective: Our study was performed to analyze the interrelationship between breastfeeding for the first 6 months of life and the incidence of febrile seizures (FS). Study Design: A case-control study was conducted in Renmin Hospital of Wuhan University. Three hundred thirty-six patients diagnosed with FS were enrolled as the case group, and 336 febrile children with matched age and gender were enrolled as the control group. Clinical information of all cases was collected from the Electronic Medical Record, including feeding patterns. The primary outcome was the difference of feeding modes between cases and controls, while the secondary outcome included the difference of feeding patterns between simple FS (SFS) and complex FS (CFS). Results: The 336 patients with FS comprised 294 with SFS and 42 with CFS. The difference in feeding methods between the case group and the control group was statistically significant, and children who were breastfed exclusively had a lower risk of suffering from FS compared with formula feeding (odds ratio [OR], 0.504 and 95% confidence interval [CI], 0.303-0.841); although partial breastfeeding exhibited a slight protective effect against FS, the protective role was not statistically significant (OR, 1.016 and 95% CI, 0.560-1.846). In addition, our dates showed that feeding mode was not a risk factor in the occurrence of SFS or CFS (p > 0.05). Conclusion: Our data confirm that exclusive breastfeeding is an independent protective factor that can reduce the occurrence of FS.

[Serum melatonin levels in children with epilepsy or febrile seizures].

OBJECTIVE: 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. METHODS: 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). RESULTS: 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). CONCLUSIONS: 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.

The Role and Effects of ANXA1 in Temporal Lobe Epilepsy: A Protection Mechanism?

BACKGROUND The endogenous protein annexin A1 (ANXA1) is an anti-inflammatory mediator in the brain that is thought to contribute to the progression of many neurological conditions. However, its exact role in temporal lobe epilepsy (TLE) remains unclear. We hypothesized that ANXA1 exerts negative actions on TLE by alleviating inflammatory damage in neurons. To identify the potential mechanism of TLE by assessing ANXA1 expression in TLE rats. MATERIAL AND METHODS TLE was induced in rats (n=70) via an intraperitoneal injection of lithium chloride (LiCl) and pilocarpine (PILO). The control group (n=10) received an injection of the equivalent amount of saline. ANXA1 expression was detected via immunohistochemistry and Western blotting. RESULTS Successful establishment of the TLE model in rats resulted in epileptic seizures. ANXA1 was immunohistochemically detected as brownish yellow particles in the dentate gyrus and the CA1 region of the door zone; this expression was predominantly localized to the cytoplasm of glia rather than neurons. ANXA1 expression was stronger in TLE rats compared with the control group. ANXA1 expression in TLE was also assessed via Western blotting, and compared between groups at various time points. ANXA1 expression was significantly increased in the acute (the first 24 h) and chronic (after 1 month) phases (P<0.001) but significantly decreased during the recovery phase (72 h, 1 week, and 2 weeks) (P<0.001). These findings suggest that ANXA1 expression is correlated with TLE activity. CONCLUSIONS Our data suggest that ANXA1 plays an important role in TLE by alleviating inflammatory damage and protecting neurons.