Efficacy and tolerability of the first antiepileptic drug in children with newly diagnosed idiopathic epilepsy.

PURPOSE: Limited data are available for the effectiveness of the antiepileptic drugs in children in daily clinical practice. The aim of this study was to investigate the efficacy and tolerability of the first prescribed old and new antiepileptic drugs in children with newly diagnosed idiopathic epilepsy during a 12-month period. METHOD: A total of 289 children (141 females and 148 males) who received phenobarbital (n=33), valproate (n=142), carbamazepine (n=42), oxcarbazepine (n=38), or levetiracetam (n=34) as the first-line treatment, were enrolled in the study. Seizure control and the occurrence of adverse events were assessed during a treatment period of 12 months. RESULTS: Overall, 245 (84.8%) patients remained seizure-free during the study period. The rate of seizure control did not differ significantly between the drug groups (p=0.099). Forty-four (15.2%) patients including 1 (3.0%) treated with phenobarbital, 22 (15.5%) with valproate, 7 (16.7%) with carbamazepine, 10 (26.3%) with oxcarbazepine, and 4 (11.8%) with levetiracetam had treatment failure. There was no significant difference between seizure-free and failure groups in terms of age, gender, seizure type, and drugs used. Overall, 80 (27.7%) patients had adverse events, of those the most common ones were behavioral problems, nausea and/or vomiting, weight gain, and learning difficulties. The reasons for treatment failures were lack of seizure control in 29 (10.0%) patients and intolerable adverse events in 15 (5.2%) patients. CONCLUSION: It appears that old (phenobarbital, valproate and carbamazepine) and new antiepileptic drugs (oxcarbazepine and levetiracetam) have similar efficacy and tolerability profiles. Institutional ethic number is 28.3.2013/14.

An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.

PURPOSE: To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls. METHODS: Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing. KEY FINDINGS: An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (JAE) syndrome and patients having generalized tonic-clonic seizures (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons). DNA sequence analysis of the INHA gene in 110 JAE/GTCS patients revealed three point mutations with possible damaging effects on inhibin function in three patients and the presence of a common ACTC haplotype (H1) with a possible dominant protective role conferred by the T allele of rs7588807 with respective p-values of 0.0005 and 0.0014. SIGNIFICANCE: The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.

Effect of nutritional support in children with spastic quadriplegia.

Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.

Antiepileptic drug-induced osteopenia in ambulatory epileptic children receiving a standard vitamin D3 supplement.

Dual energy X-ray absorptiometry (DEXA) is a non-invasive, rapid, accurate and highly reproducible method for the assessment of antiepileptic drug (AED)-induced osteopenia in epileptic children. In this study, we investigated bone mineral density (BMD) using DEXA in 56 epileptic children receiving long-term AED treatment for at least 2 years. All children received AED monotherapy or polytherapy plus a standard vitamin D3 supplement (400 U/day). BMD measurements were made from lumbar spine (L2-L4) regions. Age- and sex-specific BMD SD scores were calculated for each child. Osteopenia was defined as SD scores less than -1.5. There was no significant difference in mean BMD values between epileptic children receiving monotherapy or polytherapy. The results were also compared to the age- and sex-specific BMD SD scores obtained from healthy Turkish children. Only three patients (5%) receiving AED therapy had a BMD SD score less than -1.5. This rate is relatively lower than the rates of previous studies conducted on ambulatory children on long-term AED treatment without vitamin D3 supplementation.

Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.