Conversation analysis might add to the differentiation of non-epileptic from epileptic seizures

Schoendienst M, Surmann V, Woermann FG, Gülich E. Conversation analysis might add to the differentiation of non-epileptic from epileptic seizures. EPILEPSIA. 2005;46(Suppl. 6):65

Ictal fear versus panic attacks: First results from conversation analysis of clinical interviews

Gülich E, Woermann FG, Rullkoetter N, Gerhards S, Lindner M, Schoendienst M. Ictal fear versus panic attacks: First results from conversation analysis of clinical interviews. EPILEPSIA. 2005;46(6):343

Ultra-fast low-angle rapid acquisition and relaxation enhancement (UFLARE) in patients with epilepsy

MRI is an important diagnostic tool in patients with epilepsy, but patient motion during long scans may result in image artefacts. We studied the utility of an ultra-fast MR sequence in patients with epilepsy. Ultra-fast low-angle rapid acquisition and relaxation enhancement (UFLARE) images were acquired for 100 consecutive patients and nine control subjects. Scans were compared with routine T2-weighted spin echo images for signal-to-noise ratio, contrast, and conspicuity, followed by a blind review of lesion detectability. UFLARE scans were also acquired for 15 patients who moved during conventional scans. All UFLARE scans had lower signal-to-noise ratios and lower contrast than the T2-weighted images. Compared with T1- and T2-weighted, PD and FLAIR images, 86% of hippocampal sclerosis (HS), 92% of large but only 24% of small white-matter lesions were detected on the blind review of the UFLARE images. Reduced motion artefacts were seen on the UFLARE images in all 15 patients who moved during the conventional scans, and in three patients UFLARE was the only sequence we were able to obtain. Despite the lower lesion detectability for smaller lesions, the use of an ultra-fast MRI sequence such as UFLARE may be very useful in patients who are not able to co-operate during conventional MRI examinations, if a general anaesthetic is to be avoided

Biallelic mutations in <em>PIGP</em> cause developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the genes involved, PIGP, has recently been associated with infantile seizures and developmental delay in two siblings. Here, we report the second family with a markedly overlapping phenotype due to a homozygous frameshift mutation (c.456delA;p.Glu153Asnfs*34) in PIGP. Flow cytometry of patient granulocytes confirmed reduced expression of glycosylphosphatidylinositol-anchored proteins as functional consequence. Our findings corroborate PIGP as a monogenic disease gene for developmental and epileptic encephalopathy

Klinischer Einsatz der funktionellen MRT bei chronischer Epilepsie

Friedrich G. W, Labudda K. Klinischer Einsatz der funktionellen MRT bei chronischer Epilepsie. Der Radiologe. 2010;50(2):123-130.Functional magnetic resonance imaging (fMRI) is frequently used in the presurgical diagnostic procedure of epilepsy patients, in particular for lateralization of speech and memory and for localization of the primary motor cortex to delineate the epileptogenic lesion from eloquent brain areas. fMRI is one of the non-invasive procedures in the presurgical diagnostic process, together with medical history, seizure semiology, neurological examination, interictal and ictal EEG, structural MRI, video EEG monitoring and neuropsychology. This diagnostic sequence leads either to the decision for or against elective epilepsy surgery or to the decision to proceed with invasive diagnostic techniques (Wada test, intra-operative or extra-operative cortical stimulation). It is difficult to evaluate the contribution of the fMRI test in isolation to the validity of the entire diagnostic sequence. Complications such as memory loss and aphasia in temporal lobe resections or paresis after frontal lobe resections are rare and rarely of disastrous extent. This further complicates the evaluation of the clinical relevance of fMRI as a predictive tool. In this article studies which investigated the concordance between fMRI and other diagnostic gold standards will be presented as well as the association between presurgical fMRI and postsurgical morbidity