[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].

Abstract excerpt

The major form of familial hyperekplexia, a rare autosomal dominant disorder, is characterized by an abnormal startle reaction elicited by auditory and somatosensory stimuli, with transitory stiffness during the neontam period, followed later by falling attacks accompanied by momentary generalized muscular stiffness. Affected neonates occasionally have fatal hypertonia. The minor form is characterized only by an...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Chromosome Mapping
• Share to Electrophysiology