Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication

Duplication of chromosome region 8q21.13-q22.2 is a rare abnormal copy number variant (CNV) previously reported in a few patients. Although these reports have mentioned the presence of seizures, the description was vague and an electroclinical syndrome has not been delineated [1–3]. Herein, we aimed to outline the epilepsy phenotype associated with 8q21.13-q22.2 duplication adding a new genetic finding to the spectrum of genetic generalized epilepsies (GGEs). Ethics approval was granted by the University Health Network Research Ethics Board.

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Up-regulated BAFF and BAFF receptor expression in patients with intractable temporal lobe epilepsy and a pilocarpine-induced epilepsy rat model

Epilepsy is the most common serious neurological disease. Although the majority of patients suffering from epilepsy are well-managed with anti-epileptic drugs (AEDs), approximately 30% of people affected by epilepsy still have recurrent seizures and are drug resistant, which can result in a progression to intractable epilepsy (IE) [1–4]. Patients with intractable temporal lobe epilepsy are usually excellent candidates for epilepsy surgery, which is efficacious in up to 70% of cases [5]. IE can give rise to serious clinical problems.

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Predicting Success of Vagus Nerve Stimulation (VNS) From EEG Symmetry

Vagus nerve stimulation (VNS) has shown to be an effective treatment for drug resistant epilepsy in numerous patients. However, long-term studies showed that a good response (>50% seizure reduction) is only achieved in 20 to 55% of the patients [1–3], which means that a substantial number of patients only show moderate or even no response to VNS treatment. Determining the success of VNS is important to counsel patients and give them information about the expected seizure reduction. Potential responders might ...

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Yield of brain imaging of neurologically normal children with first afebrile seizure in the outpatient clinical setting

We read with great interest the article by K Mohamed and colleagues on the neuro-imaging evaluation after the first afebrile seizure in children, in which they identified abnormalities among 32/96 (33%) patients[1]. The authors identified a significantly higher percentage (59%) of abnormal imaging among those under the age of 2 years, however there was no statistically significant difference between those with focal epileptic and generalised seizures (35% vs 32% respectively). Their retrospective study included previously healthy patients who attended their ...

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Panic symptoms in transient loss of consciousness: Frequency and diagnostic value in psychogenic nonepileptic seizures, epilepsy and syncope

Psychogenic nonepileptic seizures (PNES) superficially resemble epileptic seizures, but are not associated with epileptiform activity. Instead, most PNES can be understood as paroxysmal responses to distressing stimuli [1,2]. Along with syncope and epilepsy, PNES are the most common diagnoses in patients presenting to doctors with transient loss of consciousness (TLOC) [3].

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