KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Objective: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.

Methods: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients.

Transition from Pediatric to Adult Specialty Care for Adolescents and Young Adults with Refractory Epilepsy: A Quality Improvement Approach.

Adolescents and young adults with refractory epilepsy are particularly vulnerable to serious medical and psychosocial challenges during transition from pediatric to adult care. Quality improvement methods were used to address the transition process on an academic medical campus. Outcomes achieved were decreased time from referral to first appointment in the adult clinic, H=8.

Project Access: Strategies to improve care for children and youth with epilepsy: illustrations of recommendations in the IOM report on the epilepsies.

Project Access (PA), funded by the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA), provided grants to state and local agencies to improve awareness, provide education, design, test, pilot and evaluate system changes, and improve quality of services and access to early diagnosis and comprehensive, coordinated health care and related services for children and youth with epilepsy residing in rural and medically underserved areas. In 2011, the Institute of Medicine of the National Academies (IOM) published a series of 13 recommendations addressing unmet psychosocial, medical, and public health needs of individuals with epilepsy, including children and youth. This paper examines the synergy between these two projects showing how the strategies utilized in the PA demonstration projects can address the IOM recommendations and how these recommendations can inform future initiatives for improving care for children and youth with epilepsy.

A consensus-based approach to patient safety in epilepsy monitoring units: recommendations for preferred practices.

Patients in an epilepsy monitoring unit (EMU) with video-EEG telemetry have a risk for seizure emergencies, injuries and adverse events, which emphasizes the need for strategies to prevent avoidable harm. An expert consensus process was used to establish recommendations for patient safety in EMUs. Workgroups analyzed literature and expert opinion regarding seizure observation, seizure provocation, acute seizures, and activity/environment.

Neurocognitive effects of adjunctive levetiracetam in children with partial-onset seizures: a randomized, double-blind, placebo-controlled, noninferiority trial.

Purpose: Evaluate potential neurocognitive effects of adjunctive levetiracetam in children with inadequately controlled partial-onset seizures (POS).

Methods: Randomized, double-blind, placebo-controlled, noninferiority safety study. Children (4-16 years; IQ > or =65) with > or =1 POS during 4 weeks before screening despite taking 1-2 antiepileptic drugs (AEDs) were randomized (2:1) to levetiracetam (20-60 mg/kg/day) or placebo for 12 weeks.

The autism-epilepsy connection.

The high prevalence of epilepsy in children with autism supports a neurobiologic etiology for autism. It remains unclear whether seizures and epileptiform activity on the EEG are causative or comorbid. It is also uncertain if focal epileptiform EEG abnormalities may be associated with stable cognitive impairment.

Topiramate or valproate in patients with juvenile myoclonic epilepsy: a randomized open-label comparison.

Few randomized, controlled trials evaluating antiepileptic drug (AED) efficacy and tolerability have focused solely on patients with juvenile myoclonic epilepsy (JME). We conducted a pilot, randomized controlled trial comparing topiramate (N=19) and valproate (N=9) in adolescents/adults with JME to evaluate clinical response when these broad-spectrum agents are titrated to optimal effect. Rating scales were used to systematically assess tolerability.

Early postnatal development of sensory gating.

Sensory gating represents the nervous system's ability to inhibit responding to irrelevant environmental stimuli. In order to characterize the early development of acoustic sensory gating, suppression of auditory evoked potential component P1 (i.e.