ABSTRACT
Disorders of the nervous system make up a remarkably high proportion of genetic counselling referrals. A wide range of autosomal dominant, usually de novo, gene mutations has been identified in the infantile epileptic encephalopathies, that overlap with the genes implicated in other severe neurodevelopmental disorders and with the cortical malformations. The focus of research on the channelopathies has drawn attention to the pathogenetic parallels among the excitable tissues. Rett syndrome is a clinically distinctive, but until recently, poorly understood disorder, almost exclusively affecting females and almost always sporadic in occurrence. The status of dyslexia as a diagnosis is sometimes misused so that, in clinical practice, it may be reduced to ‘difficulty learning to read’ with parents, schools and even psychologists forgetting that this should only be termed dyslexia if the child has very specific problems with reading while coping reasonably well with other aspects of learning.
