Eylert Brodtkorb

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

Autosomal dominant lateral temporal lobe epilepsy previously has been linked to chromosome 10q22‐q24, and recently mutations in the LGI1 gene (Leucine‐rich gene, Glioma Inactivated) have been found in some autosomal dominant lateral temporal lobe epilepsy families. We have now identified a missense mutation affecting a conserved cysteine residue in the extracellular region of the LGI1 protein. The C46R mutation is associated with autosomal dominant lateral temporal lobe epilepsy in a large Norwegian family showing unusual clinical features like short‐lasting sensory aphasia and auditory symptoms.

Ethinyl estradiol, not progestogens, reduces lamotrigine serum concentrations.

Summary:  Purpose: To study the interaction between lamotrigine (LTG) and hormonal contraception.

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects

Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3‐year period was performed, 13 patients (aged 12–41, mean age 27) were identified. They represent 4.3 % of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy‐and/or poly‐microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.

Levetiracetam concentrations in serum and in breast milk at birth and during lactation.

Summary:  Purpose: To study the pharmacokinetics of levetiracetam (LEV) at birth, during lactation, and in the nursed infant.

The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins

Recently mutations in the LGI1 (leucine‐rich, glioma‐inactivated 1) gene have been found in human temporal lobe epilepsy. We have now identified three formerly unknown LGI‐like genes. Hydropathy plots and pattern analysis showed that LGI genes encode proteins with large extra‐ and intracellular domains connected by a single transmembrane region. Sequence analysis demonstrated that LGI1, LGI2, LGI3, and LGI4 form a distinct subfamily when compared to other leucine‐rich repeat‐containing proteins. In silico mapping and radiation hybrid experiments assigned LGI2, LGI3, and LGI4 to different chromosomal regions (4p15.2, 8p21.3, 19q13.11), some of which have been implicated in epileptogenesis and/or tumorigenesis.

EFNS guideline on the diagnosis and management of alcohol‐related seizures: report of an EFNS task force

Despite being a considerable problem in neurological practice and responsible for one‐third of seizure‐related admissions, there is little consensus as to the optimal investigation and management of alcohol‐related seizures. The final literature search was undertaken in September 2004. Consensus recommendations are given graded according to the EFNS guidance regulations. To support the history taking, use of a structured questionnaire is recommended. When the drinking history is inconclusive, elevated values of carbohydrate‐deficient transferrin and/or gammaglutamyl transferase can support a clinical suspicion. A first epileptic seizure should prompt neuroimaging (CT or MRI). Before starting any carbohydrate containing fluids or food, patients presenting with suspected alcohol overuse should be given prophylactic thiamine parenterally. After an alcohol withdrawal seizure (AWS), the patient should be observed in hospital for at least 24 h and the severity of withdrawal symptoms needs to be followed. For patients with no history of withdrawal seizures and mild to moderate withdrawal symptoms, routine seizure preventive treatment is not necessary. Generally, benzodiazepines are efficacious and safe for primary and secondary seizure prevention; diazepam or, if available, lorazepam, is recommended. The efficacy of other drugs is insufficiently documented. Concerning long‐term recommendations for non‐alcohol dependant patients with partial epilepsy and controlled seizures, small amounts of alcohol may be safe. Alcohol‐related seizures require particular attention both in the diagnostic work‐up and treatment. Benzodiazepines should be chosen for the treatment and prevention of recurrent AWS.

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.

Summary: Purpose: To describe the clinical features of a family from Northern Norway in which autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is associated with a Ser248Phe amino acid exchange in the second transmembrane domain of the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). We also tested for evidence of a de novo mutation or founder effect by comparing haplotypes with the original Australian family where the Ser248Phe mutation was first described.

Rash from Antiepileptic Drugs: Influence by Gender, Age, and Learning Disability

Summary:  Purpose: Cutaneous adverse reactions from antiepileptic drugs (AEDs) are common, but have received little scientific attention from a clinical point of view. We wanted to study the incidence of skin reactions of current AEDs and to explore their relation to clinical parameters such as gender, age, and learning disability.

Familial Temporal Lobe Epilepsy with Aphasic Seizures and Linkage to Chromosome 10q22-q24

Summary:  Purpose: To describe the phenotypic expression of a new family with familial lateral temporal lobe epilepsy with aphasic seizures, and to compare the findings with the clinical features of previously reported families linked to chromosome 10q22‐q24.

A structured, nurse-led intervention program improves quality of life in patients with epilepsy: A randomized, controlled trial

We tested the hypothesis that structured epilepsy nursing improves quality of life (QOL). One hundred fourteen adult patients with uncontrolled epilepsy were randomly assigned to either an intervention group or a control group. The intervention group was offered an interactive, 1-day group education program followed by extended nurse follow-up and counseling. The nurse was present at as many outpatient consultations as possible and performed repeated consultations by telephone. All patients completed the QOLIE-89 before randomization and after 2 years. QOL was significantly improved from inclusion to completion of study in the intervention group (P=0.019), mainly in the subitems for Health Discouragement (P=0.01), Medication Effects (P=0.035), and Physical Role Limitations (P=0.05). To our knowledge, this is the first study to demonstrate a significant effect of a structured nurse-led intervention program in QOL of patients with epilepsy.