Seizure induced cardiac asystole in epilepsy patients undergoing long term video-EEG monitoring.

Ictal-related cardiac asystole is supposed to be a risk factor for sudden unexpected death in epilepsy (SUDEP). We retrospectively analyzed the occurrence of ictal asystole in 2003 epilepsy patients undergoing long-term video EEG/ECG monitoring from 1/1999 to 6/2010 at the Freiburg epilepsy centre. Seven patients had cardiac arrest with a duration of at least 3s; 6 ictal, one postictal. In all patients, the temporal lobe was involved in ictal activity based on neurophysiological investigations or morphological lesion. Whereas asystole was self-limited in six cases, one patient with insular seizure origin had to undergo cardiopulmonary resuscitation. Interestingly, also patients with a short history of epilepsy, low seizure frequency and under treatment in monotherapy showed episodes of asystole. In all cases, even with brief cardiac arrest, asystole was associated with subsequent EEG flattening. In conclusion, ictal asystole is a rare event even in a population undergoing major changes in antiepileptic medication. Temporal lobe epilepsy was associated with a risk for asystole; cardiac arrest also occurred in patients who, based on their history, might have not been considered at elevated risk for SUDEP.

[Presurgical video EEG monitoring of lesional epilepsy patients]. / Zur Notwendigkeit prächirurgischer Video-EEG-Registrierungen bei läsionellen Epilepsiepatienten.

A 25-year-old female patient was suggested for epilepsy surgery based on a left frontal cavernoma and seizures consistent with clonic twitching of her right arm. Only after prolonged video EEG monitoring and discontinuation of current antiepileptic treatment with valproic acid could generalized sharp wave discharges (3/s) and bilateral myoclonic seizures be documented. Imaging of a lesion may lead to false interpretation of seizure semiology, false classification of epilepsy as focal, and erroneous and potentially dangerous therapeutic procedures. Ictal video EEG recordings demonstrating a causal relationship between lesion and epilepsy are indispensible prior to epilepsy surgery.

The promoter for constitutive expression of the human ICln gene CLNS1A.

The ICln protein is expressed ubiquitously in mammals. Experiments designed to knock down the ICln protein in NIH 3T3 fibroblasts as well as in epithelial cells led to the conclusion that this protein is crucially involved in volume regulation after cytoplasmic swelling. Reconstitution of the ICln protein in lipid bilayers revealed the ion channel nature of ICln. Here we describe a new human promoter sequence, composed of 89 nucleotides, which is responsible for a highly constitutive expression of the ICln protein. The promoter sequence lacks a TATA box, and the transcription can be effected at multiple sites. In addition to the starting sites, upstream sequence elements are mandatory for an efficient transcription of the ICln gene (CLNS1A). These new nucleotide elements were defined by site-directed mutagenesis.

Characterization of the human gene coding for the swelling-dependent chloride channel ICln at position 11q13.5-14.1 (CLNS1A) and further characterization of the chromosome 6 (CLNS1B) localization.

Expression cloning revealed a chloride channel (ICln) that we found to be fundamental for the regulatory volume decrease in a variety of cells. The chromosomal localization of the human ICln-gene showed two loci, one at chromosome 11 in position q13.5-q14.1, termed CLNS1A, and a second one at chromosome 6 at position p12.1-q13, termed CLNS1B. In this study, we offer a detailed characterization of the CLNS1A gene and provide the exact position (6p12) and sequence data of CLNS1B, an intronless gene 91.3% homologous to the coding region of CLNS1A.