Sunday, July 24, 2011

NJA - Epileptologie 2011; 28: 91 – 94

Status Epilepticus in Children and SCN1A Gene

Christian M. Korff

Summary

Epileptic seizures concern approximately 5% of all children. For unknown reasons, some of these young patients show a tendency to present with prolonged epileptic seizures, which sometimes exceed 30 minutes (status epilepticus). In the majority of cases, status epilepticus is observed in infants, during a febrile illness. It can also be observed in well-delineated epileptic syndromes of infancy, like Dravet syndrome. This entity is associated with various mutations on the SCN1A gene, which encodes for the alpha-1 subunit of the sodium channel. Such mutations have also been described in relation with less severe forms of myoclonic epilepsies in infants, in certain patients with febrile seizures, in a form of familial generalized epilepsy (Generalized Epilepsy with Febrile Seizures Plus) of variable phenotypic expression, and in a form of encephalopathy linked with certain vaccinations. A good number of these patients share this tendency to present with prolonged seizures. Our study aims at knowing if the SCN1A gene plays a role in status epilepticus in children. On a long term, the objective is to contribute to an improvement in the management of status epilepticus in children, by adapting the treatment to the patient’s genotype.

Entire article, click here.

Saturday, July 23, 2011

NJA - Seizure: European Journal of Epilepsy

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder

A.A. Mhannia, J.N. Hartleya, W.G. Sangerb, A.E. Chudleya, E.L. Spriggsa

Abstract

Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. Severe phenotypes usually result from loss of function mutations, whereas missense mutations cause a milder phenotype by altering the sodium channel activity. We report on a novel missense variant (p.Val1379Leu) in the SCN1A gene segregating in an autosomal dominant pattern in a family exhibiting a variable epilepsy phenotype ranging from generalized epilepsy with febrile seizures during infancy to a well controlled seizure disorder in adulthood. This report supports the importance of SCN1A mutation analysis in families in which seizure disorders segregate in an autosomal dominant fashion.

Keywords: SCN1A, GEFS+, Dominant

Original article, click here.