The spectrum of intermediate SCN8A-related epilepsy.

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE).

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Objective: To examine the role of mutations in GABRB3 encoding the β subunit of the GABA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.

Methods: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs.

Results: We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset.

[Valproate treatment during pregnancy: description of four cases with foetal valproate syndrome].

Introduction: Treatment with valproate is associated with an increased risk of teratogenicity compared to other antiepileptic drugs and can cause a complex of serious symptoms usually referred to as "foetal valproate symdrome" which is characterised by major and minor malformations in association with developmental delay. This paper aims to give attention to the syndrome through four case descriptions. Furthermore, possible risk factors and the use of the mutation 677C-T as a risk marker are discussed.

[Children with commotio cerebri at paediatric departments in Denmark].

Introduction: Commotio cerebri often occurs in children. The purpose of this study is to illustrate how children with commotio cerebri are treated at paediatric departments in Denmark

Materials And Methods: A questionnaire regarding visitation, admission, observation, discharge and follow-up of children with commotio cerebri as well as department guidelines was mailed to Danish paediatric departments in the period March-September 2006.

Results: Children are often initially treated in the emergency room and admitted to a paediatric department if there is a need for observation.

[Ten practical, theory-based tips for clinical course planners].

A list of practical advice and examples are given based on the literature. E-learning with cliffhanger text-cases can activate prior knowledge, and selected examination skills can be trained with simulated patients. Patient video recordings can be used to train clinical reasoning skills, including pattern recognition and hypothetic-deductive approaches.

[Metabolic disease or shaken baby syndrome?].

We describe two children with subdural haematoma and glutaricacidaemia type 1, who were diagnosed late because of initial suspicion of shaken baby syndrome.