Epilepsia. Official Journal of the International League Against Epilepsy

Increased breathing rate, apnea, and respiratory failure are associated with sudden unexpected death in epilepsy (SUDEP). We recently demonstrated the progressive nature of epilepsy and mortality in Kcna1^−/− mice, a model of temporal lobe epilepsy and SUDEP. Here we tested the hypothesis that respiratory dysfunction progresses with age in Kcna1^−/− mice, thereby increasing risk of respiratory failure and sudden death (SD).

Respiratory parameters were determined in conscious mice at baseline and following increasing doses of methacholine (MCh) ...

Clinical absences are now classified as “generalized nonmotor (absence) seizures” by the International League Against Epilepsy (ILAE). The aim of this paper is to critically review the concept of absences and to put the accompanying focal and motor symptoms into the context of the emerging pathophysiological knowledge.

For this narrative review we performed an extensive literature search on the term “absence,” and analyzed the plethora of symptoms observed in clinical absences.

Arising from the localization and the ...

Epilepsy is characterized by transient alterations in brain synchronization resulting in seizures with a wide spectrum of manifestations. Seizure severity and risks for patients depend on the evolution and spread of the hypersynchronous discharges. With standard visual inspection and pattern classification, this evolution could not be predicted early on. It is still unclear to what degree the seizure onset zone determines seizure severity. Such information would improve our understanding of ictal epileptic activity and the existing electroencephalogram ...

Mood disorders are the most common comorbid conditions in epilepsy, but the cause remains unclear. One possible explanation is a shared genetic susceptibility to epilepsy and mood disorders. We tested this hypothesis by evaluating lifetime prevalence of mood disorders in relatives with and without epilepsy in families containing multiple individuals with epilepsy, and comparing the findings with rates from a general population sample.

The Composite International Diagnostic Interview was administered to 192 individuals from 60 families, including ...

Mood disorders are the most common comorbid conditions in epilepsy, but the cause remains unclear. One possible explanation is a shared genetic susceptibility to epilepsy and mood disorders. We tested this hypothesis by evaluating lifetime prevalence of mood disorders in relatives with and without epilepsy in families containing multiple individuals with epilepsy, and comparing the findings with rates from a general population sample.

The Composite International Diagnostic Interview was administered to 192 individuals from 60 families, including ...

Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.

We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.

Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with ...

To clarify longitudinal changes in white matter microstructures from the onset of disease in patients with West syndrome (WS) of unknown etiology.

Diffusion tensor imaging (DTI) was prospectively performed at onset and at 12 and 24 months old in 17 children with WS of unknown etiology. DTI was analyzed using tract-based spatial statistics (TBSS) and tract-specific analysis (TSA) of 13 fiber tracts, and fractional anisotropy (FA) and mean diffusivity (MD) were compared with those of 42 age-matched ...

Epileptic spasms (ES) often become drug-resistant. To reveal the electrophysiological difference between children with ES (ES+) and without ES (ES−), we compared the occurrence rate (OR) of high-frequency oscillations (HFOs) and the modulation index (MI) of coupling between slow and fast oscillations.

In ES+, we hypothesized that (1) pathological HFOs are more widely distributed and (2) slow oscillations show stronger coupling with pathological HFOs than in ES−.

We retrospectively reviewed 24 children with drug-resistant multilobar onset epilepsy, who ...