From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.
Epilepsy is a frequent neurologic disease in childhood, characterized by recurrent seizures and sometimes with major effects on social, behavioral, and cognitive development. Childhood focal epilepsies particularly are age-related diseases mainly occurring during developmental critical periods. A complex interplay between brain development and maturation processes and susceptibility genes may contribute to the development of various childhood epileptic syndromes associated with language and cognitive deficits. Indeed, the Landau-Kleffner syndrome (LKS), the continuous spike-and-waves during sleep syndrome (CSWS), and the benign childhood epilepsy with centrotemporal spikes (BCECTS) or benign rolandic epilepsy, are different entities that are considered as part of a single continuous spectrum of disorders. Genetic predisposition with simple to complex modes of inheritance has long been suspected for this wide group of childhood focal epilepsies. Recent reports on the involvement of the SRPX2 and ELP4 genes with possible roles in cell motility, migration, and adhesion have provided first insights into the complex molecular bases of childhood focal epilepsies.
Rudolf
Gabrielle
G
Service de Neurologie, Hôpitaux Universitaires de Strasbourg, 1 place de l'Hôpital BP 426, Strasbourg cedex, France. Gabrielle.Rudolf@chrustrasbourg.fr
Valenti
Maria P
MP
Hirsch
Edouard
E
Szepetowski
Pierre
P
D003072:Cognition Disorders / Q000235:genetics; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics*; D019305:Epilepsy, Rolandic / Q000235:genetics*; D006801:Humans; D018887:Landau-Kleffner Syndrome / Q000235:genetics*; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics; D011379:Prognosis; D012890:Sleep / Q000502:physiology
C456976:ELP4 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; C116881:SRPX2 protein, human