Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice

Abstract

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

Concepts, Beliefs, and Traditional Treatment for Childhood Seizures in a Quilombola Community in Northeastern Brazil: Analysis by the Discourse of the Collective Speech

“…These findings are consistent with current research, pointing to specific genes triggering recurrent seizures or epileptic diseases in childhood [24]. The data related to the socioeconomic profile presented was characterized by the predominance of the female sex and the "married" marital status, with a concentration of the age groups of elderly and mature adults.…”

Ohtahara syndrome: a case presentation associated with Pierre Robin syndrome

“…Además, este deterioro clínico progresa con el tiempo; y se acompañan de una anormalidad severa en el electroencefalograma (1,4) . Los siguientes síndromes son considerados encefalopatías epilépticas de la niñez: encefalopatía mioclónica temprana, síndrome de Ohtahara, epilepsia de la infancia con convulsiones focales migrantes, síndrome de West, síndrome Dravet, síndrome Doose o epilepsia con convulsiones mioclónicas atónicas, síndrome Lennox-Gastaut, encefalopatía epiléptica con continuo de picos y ondas durante el sueño, y síndrome Landau-Kleffner.…”

“…Las convulsiones se presentan más comúnmente como espasmos tónicos que se desarrollan en series o en forma aislada, con una duración de hasta 10 segundos; pero también pueden desarrollarse crisis parciales motoras erráticas, convulsiones tónico-clónicas unilaterales, alternantes entre ambos hemicuerpos (en báscula) y crisis generalizadas tónico-clónicas. Las crisis parciales se observan en la tercera parte de los casos (4,7) .…”

Epilepsy: Is there hope?

“…If used with wisdom, it can contribute to the clinical diagnosis and management with practical interventions12. Advances in molecular genetics have led to the identification of several genes for childhood epileptic encephalopathies with phenotype-genotype correlations13. Limitations of genetic testing are the lack of availability and relatively high cost.…”