Clinical, radiological and genetic aspects of leukodystrophies.

The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q deletion syndrome, adrenoleukodysrtophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher leukodystrophy, Alexander disease and olivo-ponto-cerebellar atrophy (OPCA).

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].

Objective And Background: Severe myoclonic epilepsy in infancy (SMEI; Dravet's syndrome) is a malignant epilepsy syndrome characterized by prolonged febrile hemiconvulsions or generalized seizures starting in the first year of life. Later on myoclonic, atypical absence, and complex partial seizures appear. When one of these seizure forms is lacking the syndrome of borderline SMEI (SMEB) is defined.

Genital automatisms in childhood partial seizures.

Purpose: To describe frequency and electroclinical characteristics as well as localizing and lateralizing value of childhood periictal genital automatisms (GAs).

Methods: Five-hundred-forty-one videotaped seizures of 109 consecutive patients <12 years with refractory partial epilepsy and postoperatively seizure-free outcome were analyzed. Genital automatisms (scratching, fondling or grabbing of the genitals) were monitored by two independent investigators.