Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.
Vagus nerve stimulation is an effective and safe adjunctive treatment for patients with refractory partial-onset seizures. It represents the advent of a new, nonpharmacologic treatment for epilepsy.
Summary:Purpose: To determine the long-term efficacy of vagus nerve stimulation (VNS) for refractory seizures. VNS is a new treatment for refractory epilepsy. Two short-term double-blind trials have demonstrated its safety and efficacy, and one long-term study in 114 patients has demonstrated a cumulative improvement in efficacy at 1 year. We report the largest prospective long-term study of VNS to date.Methods: Patients with six or more complex partial or generalized tonic-clonic seizures enrolled in the pivotal E05 study were prospectively evaluated for 12 months. The primary outcome variable was the percentage reduction in total seizure frequency at 3 and 12 months after completion of the acute E05 trial, compared with the preimplantation baseline. Subjects originally randomized to low stimulation (active-control group) were crossed over to therapeutic stimulation settings for the first time. Subjects initially randomized to high settings were maintained on high settings throughout the 12-month study.Results: The median reduction at 12 months after completion of the initial double-blind study was 45%. At 12 months, 35% of 195 subjects had a >50% reduction in seizures, and 20% of 195 had a >75% reduction in seizures.Conclusions: The efficacy of VNS improves during 12 months, and many subjects sustain >75% reductions in seizures. Key Words: Vagus nerve stimulation-Intractable epilepsy.Vagus nerve stimulation (VNS) has emerged as an effective treatment for medically intractable epilepsy ( 1-3). VNS uses an implantable, programmable pulse generator powered by a lithium battery, which is connected to a helical bipolar lead. The lead is attached to the midcervical portion of the left vagus nerve and delivers
We treated 24 generalized epilepsy patients with vagus nerve stimulation (VNS), comparing seizure rates during a 1-month baseline with 3 months of VNS. Median seizure rate reduction was -46%. Sixteen of the 24 patients had better than a -30% reduction and 11 of the 24 patients had better than a -50% reduction in seizure rate. A mild cough during stimulation occurred in six patients. Patients with higher baseline seizure rates and later ages at epilepsy onset had the best responses to VNS. Our findings suggest VNS is an effective treatment for medication-resistant generalized epilepsy even in patients as young as 4 years.
Administration of a single rectal dose of Diastat was significantly more effective than placebo in reducing the number of seizures following an episode of ARS. Caregivers could administer treatment safely and effectively in a nonmedical setting.
Because postmortem brain and adrenal tissue from patients with adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) have been shown to contain abnormally large amounts of very long chain fatty acids (C24 through C30), we searched for such an abnormality in cultured skin fibroblasts. Total lipid extracts of cultured fibroblasts were hydrolyzed, their fatty acid composition was determined by gas-liquid chromatography, and the ratio of C26 to C22 fatty acids was calculated. In 29 control cell lines this ratio was 0.064 +/- 0.019. In 5 patients with autopsy-proved ALD the ratio was 0.778 +/- 0.139; in 6 patients with clinical features typical of ALD it was 0.764 +/- 0.092; in 2 patients with autopsy-proved AMN, 0.890 +/- 0.02; and in 2 patients with clinical features typical of AMN, 0.560 +/- 0.079. Abnormal ratios were observed in 4 of 5 ALD heterozygotes. In 3 patients in whom the diagnosis of ALD was suspected, an abnormal ratio (0.860) was observed in 1 and normal ratios (0.06 and 0.074) in the 2 others.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.