A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.

Doria Lamba, Laura

A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam. [electronic resource] - Journal of child neurology Jun 2007 - 769-72 p. digital

Publication Type: Case Reports; Journal Article

0883-0738

10.1177/0883073807303996 doi


Anticonvulsants--therapeutic use
Child, Preschool
Clonazepam--therapeutic use
Family Health
Female
Glutamic Acid--genetics
Humans
Lysine--genetics
Male
Muscle Hypertonia--diagnosis
Point Mutation
Pregnancy
Prenatal Diagnosis
Receptors, Glycine--genetics
Reflex, Abnormal