Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or in association with epilepsy, but the genetic causes and pathophysiological mechanisms are still poorly understood. We performed a clinical evaluation and genetic analysis in a five-generation family with co-occurrence of PED and epilepsy (n = 39), suggesting that this combination represents a clinical entity. Based on a whole genome linkage analysis we screened SLC2A1, encoding the glucose transporter of the blood-brain-barrier, GLUT1 and identified heterozygous missense and frameshift mutations segregating in this and three other nuclear families with a similar phenotype. PED was characterized by choreoathetosis, dystonia or both, affecting mainly the legs. Predominant epileptic seizure types were primary generalized. A median CSF/blood glucose ratio of 0.52 (normal >0.60) in the patients and a reduced glucose uptake by mutated transporters compared with the wild-type as determined in Xenopus oocytes confirmed a pathogenic role of these mutations. Functional imaging studies implicated alterations in glucose metabolism in the corticostriate pathways in the pathophysiology of PED and in the frontal lobe cortex in the pathophysiology of epileptic seizures. Three patients were successfully treated with a ketogenic diet. In conclusion, co-occurring PED and epilepsy can be due to autosomal dominant heterozygous SLC2A1 mutations, expanding the phenotypic spectrum associated with GLUT1 deficiency and providing a potential new treatment option for this clinical syndrome.

Electrocardiography has added value to automatically detect seizures in temporal lobe epilepsy (TLE) patients. The wired hospital system is not suited for a long-term seizure detection system at home. To address this need, the performance of two wearable devices, based on electrocardiography (ECG) and photoplethysmography (PPG), are compared with hospital ECG using an existing seizure detection algorithm. This algorithm classifies the seizures on the basis of heart rate features, extracted from the heart rate increase. The algorithm was applied to recordings of 11 patients in a hospital setting with 701 h capturing 47 (fronto-)temporal lobe seizures. The sensitivities of the hospital system, the wearable ECG device and the wearable PPG device were respectively 57%, 70% and 32%, with corresponding false alarms per hour of 1.92, 2.11 and 1.80. Whereas seizure detection performance using the wrist-worn PPG device was considerably lower, the performance using the wearable ECG is proven to be similar to that of the hospital ECG.

Cerebral perfusion changes reliably reflect changes in neuronal activity. Our aim was to obtain new insights into the pathophysiology of complex partial seizures (CPS) in patients with hippocampal sclerosis (HS) using interictal and ictal single photon emission computed tomography (SPECT). We studied 24 patients with refractory temporal lobe epilepsy (TLE) associated with HS. All had an interictal and ictal SPECT with early injection during a CPS. Images were normalized and co‐registered. Using statistical parametric mapping (SPM99), brain regions with significant ictal perfusion changes were determined. To assess possible interrelationships between these regions, Pearson correlation coefficients were calculated. The temporal lobe ipsilateral to the seizure focus, the border of the ipsilateral middle frontal and precentral gyrus, both occipital lobes and two small regions in the contralateral postcentral gyrus showed ictal hyperperfusion. The frontal lobes, contralateral posterior cerebellum and ipsilateral precuneus showed hypoperfusion. Further exploratory analysis suggested an association between ipsilateral temporal lobe hyperperfusion and ipsilateral frontal lobe hypoperfusion, and an inverse association between seizure duration and hyperperfusion in the ipsilateral anterior cerebellum and contralateral postcentral gyrus. We conclude that there is a network of perfusion changes during CPS in patients with HS. Studying a particular seizure type in patients with HS with peri‐ictal SPECT performed during a defined time window will allow further analysis of the cerebral network activities, and excitatory, inhibitory and gating mechanisms during seizures associated with HS.

The aim of this article is to give a subjective review of the usefulness of single photon emission computed tomography (SPECT) and positron emission tomography (PET) imaging in clinical practice in epilepsy for 2007. Both ictal perfusion SPECT and interictal fluorodeoxyglucose PET can provide new information in the presurgical evaluation of intractable partial epilepsy. These functional imaging modalities reflect dynamic seizure-related changes in cerebral cellular functions. Although asymmetry of fluorodeoxyglucose PET metabolism has been useful to localize the epileptic temporal lobe, which tends to be more hypometabolic than the contralateral one, both frontal lobes are more hypometabolic than the epileptic temporal lobe, and may represent a region of 'surround inhibition'. Due to its low temporal resolution, ictal perfusion SPECT hyperperfusion patterns often contain both the ictal onset zone and propagation pathways. These patterns often have a multilobulated 'hourglass' appearance. The largest and most intense hyperperfusion cluster often represents ictal propagation, and does not always need to be resected in order to render a patient seizure free. Optimized interictal FDG-PET and ictal perfusion SPECT as part of a multimodality imaging platform will be important tools to better understand the neurobiology of epilepsy and to better define the epileptogenic, ictal onset, functional deficit and surround inhibition zones in refractory partial epilepsy.