The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin

Summary

Objective

SCN8A encephalopathy (early infantile epileptic encephalopathy; EIEE13) is caused by gain-of-function mutations resulting in hyperactivity of the voltage-gated sodium channel Nav1.6. The channel is concentrated at the axon initial segment (AIS) and is involved in establishing neuronal excitability. Clinical features of SCN8A encephalopathy include seizure onset between 0 and 18 months of age, intellectual disability, and developmental delay. Seizures are often refractory to treatment with standard antiepileptic drugs, and sudden unexpected death in epilepsy (SUDEP) has been ...

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WONOEP appraisal: Molecular and cellular biomarkers for epilepsy

Summary

Peripheral biomarkers have myriad potential uses for treatment, prediction, prognostication, and pharmacovigilance in epilepsy. To date, no single peripheral biomarker has demonstrated proven effectiveness, although multiple candidates are in development. In this review, we discuss the major areas of focus including inflammation, blood–brain barrier dysfunction, redox alterations, metabolism, hormones and growth factors.

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Revised version of quality guidelines for presurgical epilepsy evaluation and surgical epilepsy therapy issued by the Austrian, German, and Swiss working group on presurgical epilepsy diagnosis and operative epilepsy treatment

Summary

The definition of minimal standards remains pivotal as a basis for a high standard of care and as a basis for staff allocation or reimbursement. Only limited publications are available regarding the required staffing or methodologic expertise in epilepsy centers. The executive board of the working group (WG) on presurgical epilepsy diagnosis and operative epilepsy treatment published the first guidelines in 2000 for Austria, Germany, and Switzerland. In 2014, revised guidelines were published and the WG decided ...

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Development and validation of the NDDI-E-Y: a screening tool for depressive symptoms in pediatric epilepsy

Summary

Objectives

To validate the revised 12-item revised Neurological Disorders Depression Inventory-Epilepsy for Youth (NDDI-E-Y), a self-report screening tool for depressive symptoms tailored to youth ages 12–17 with epilepsy.

Methods

Youth at two sites completed the NDDI-E-Y during a routine epilepsy visit. Youth at one site also completed the Children’s Depression Inventory-2 (CDI-2). Seizure and demographic data were abstracted from the electronic medical record. Exploratory factor analyses were conducted. Internal consistency, area under the curve (AUC), and construct validity were ...

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Impact of frequency and lateralization of interictal discharges on neuropsychological and fine motor status in children with benign epilepsy with centrotemporal spikes

Summary

Despite a positive prognosis for seizure remission, children with benign epilepsy with centrotemporal spikes (BECTS) have been reported to exhibit subtle neuropsychological difficulties. We examined the relationship between patterns of centrotemporal spikes (the typical electroencephalography [EEG] finding in BECTS) and neuropsychological and motor outcomes in children with new-onset BECTS. Thirty-four patients with new-onset BECTS (not taking antiepileptic medication) and 48 typically developing children participated in the study. In BECTS patients, centrotemporal spikes (CTS) were evaluated in the ...

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Correlates of health-related quality of life in children with drug resistant epilepsy

Summary

Objective

Health-related quality of life (HRQL) is compromised in children with epilepsy. The current study aimed to identify correlates of HRQL in children with drug resistant epilepsy.

Methods

Data came from 115 children enrolled in the Impact of Pediatric Epilepsy Surgery on Health-Related Quality of Life Study (PEPSQOL), a multicenter prospective cohort study. Individual, clinical, and family factors were evaluated. HRQL was measured using the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE), a parent-rated epilepsy-specific instrument, with composite ...

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Patient safety events in hospital care of individuals with epilepsy

Summary

Objectives

(1) To describe patient adverse events (PAEs) experienced by hospitalized individuals with epilepsy and examine the association of an epilepsy diagnosis on risk of specific PAEs; (2) to examine the impact of a PAE on (a) length of stay (LOS), (b) inpatient death, and (c) use of institutional post-acute care.

Methods

We applied the Agency for Healthcare Research and Quality (AHRQ) Patient Safety Indicator (PSI) software to the National Inpatient Sample database to identify potential medical and postoperative ...

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Ketogenic diet treatment increases longevity in Kcna1-null mice, a model of sudden unexpected death in epilepsy

Summary

Individuals with poorly controlled epilepsy have a higher risk for sudden unexpected death in epilepsy (SUDEP). With approximately one third of people with epilepsy not achieving adequate seizure control with current antiseizure drugs, there is a critical need to identify treatments that reduce risk factors for SUDEP. The Kcna1-null mutant mouse models risk factors and terminal events associated with SUDEP. In the current study, we demonstrate the progressive nature of epilepsy and sudden death in this model ...

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Does status epilepticus induced at early postnatal period change excitability after cortical epileptic afterdischarges?

Summary

Possible changes of cortical excitability after status epilepticus (SE) elicited in 12-day-old rats were studied by means of paired cortical afterdischarges (ADs). Consequences of lithium-pilocarpine status were studied in animals with implanted electrodes 3, 6, 9, 13, and 26 days after SE. Paired low-frequency stimulation with a 1-min interval was repeated after 10 min, and duration of ADs was measured. Control rats received saline instead of pilocarpine; other treatments were the same as in SE group. Postictal ...

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Bioavailability and bioequivalence comparison of brivaracetam 10, 50, 75, and 100 mg tablets and 100 mg intravenous bolus

Summary

Objective

To determine the bioequivalence of brivaracetam oral tablet formulations (10, 75, and 100 mg) versus 50 mg oral tablet and to compare the bioavailability of brivaracetam 100 mg intravenous (i.v.) bolus versus 50 and 100 mg tablets, in healthy participants.

Methods

Phase 1, randomized, open-label, five-period crossover study. Participants received five single doses of brivaracetam: 10, 50 (reference), 75, and 100 mg oral tablets; 100 mg, i.v., bolus injection. Pharmacokinetic parameters (maximum plasma concentration [Cmax], area under the ...

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