What’s new in: “Genetics in childhood epilepsy”

Abstract

In recent years, different mutations in genes that control the excitability of neurons have been described in idiopathic childhood epilepsies. Most commonly, sodium/potassium channelopathies and GABA-receptor mutations are involved. Major progress has been made in the field of idiopathic generalised epilepsies associated with febrile seizures (GEFS+). It now is becoming clear that mutations should not only be looked for in familial cases, but also in sporadic cases, especially in infants and young children with unexplained severe epileptic encephalopathies. Many studies also define 'epilepsy susceptibility genes', which contribute to one's individual genetic vulnerability to develop epilepsy. It should be realized, however, that in the most common idiopathic benign childhood epilepsies (benign rolandic and occipital epilepsies), major breakthroughs are still awaited. In addition, a better clinical description of the epileptic phenotypes is needed to explain more precisely the genotypic and phenotypic heterogeneity. Genetic studies are nowadays becoming a necessary diagnostic step in the evaluation of idiopathic childhood epilepsies, not only in familial cases, but also in sporadic cases.

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

“…And it has been noticed the majority of genes underlying autosomal dominant idiopathic epilepsies are the ones encoding neuronal ion channel subunits, indicating that ion channels play a central role in both the epileptogenesis and the development of idiopathic epilepsies (Armijo et al, 2005;Avanzini et al, 2007;Gutierrez-Delicado & Serratosa, 2004;Helbig et al, 2008;Lagae, 2008;Mulley et al, 2005;Mulley et al, 2003). This includes the examples of benign familial neonatal seizures (BFNS) caused by mutations of voltage-gated potassium channel genes Li et al, 2008b;Singh et al, 1998), generalized epilepsy with febrile seizures plus (GEFS+) (Sugawara et al, 2001;Wallace et al, 1998) and benign familial neonatal-infantile seizures (BFNIS) (Heron et al, 2002) by the voltage-gated sodium channel gene, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) by neuronal nicotinic acetylcholine receptor subunit gene (Steinlein et al, 1995) and the like.…”

“…edu/cgi-bin/hgGateway), and we found the interval 1p36.12-p35.1 contains 315 known genes and 175 predicted genes. By analyzing and comparing the structural and functional characteristics of numerous genes that have been identified to involve in different types of idiopathic epilepsies (Armijo et al, 2005;Avanzini, Franceschetti, & Mantegazza, 2007;Gutierrez-Delicado & Serratosa, 2004;Helbig, Scheffer, Mulley, & Berkovic, 2008;Lagae, 2008;Mulley, Scheffer, Harkin, Berkovic, & Dibbens, 2005;Mulley, Scheffer, Petrou, & Berkovic, 2003), we mainly focused on the following criteria when selecting candidate genes: (a) encode ion channels, pumps, or carriers with relation to neuronal transportation of ions, especially of potassium, sodium, calcium or chloride; (b) encode neurotransmitters and/or neurotransmitter receptors; (c) be relative to excitability, differentiation, development and maturation of neurons; (d) have high and/or selective expression in the central and peripheral nervous system.…”

Proteins observed in scalp hair from preschool children

“…Mammaglobin-B (SCGB2A1), which is linked with familial febrile seizures in preschool children (54,55) and chemoresistant cancers in adults (56), was observed only in children's hair.…”

Children with epilepsy: a review of the international literature using a quality of life lens

“…It is estimated that the number of children and adolescents in Europe with active epilepsy is 0.9 million or 4.5–5.0 children out of 1,000 (Forsgren, Beghi, Õun & Sillanpää, ), making it one of the most frequently diagnosed neurological disorders affecting children (Ettinger, Weisbrot, Nolan, Gadow, Vitale, Andriola, Lenn, Novak & Herman, ; Fejerman, ; Lagae, ). Epilepsy is characterised by recurring seizures, as well as by its effects on social, behavioural and cognitive development (Lagae, ). Seizures are caused by an electrical disturbance in the brain that changes an individual's sensation, awareness and/or behaviour (Canadian Epilepsy Alliance, ).…”