TY - GEN AU - Doria Lamba,Laura AU - Giribaldi,Gaia AU - De Negri,Emanuela AU - Follo,Roberta AU - De Grandis,Elisa AU - Pintaudi,Maria AU - Veneselli,Edvige TI - A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam SN - 0883-0738 PY - 2007///0831 KW - Anticonvulsants KW - therapeutic use KW - Child, Preschool KW - Clonazepam KW - Family Health KW - Female KW - Glutamic Acid KW - genetics KW - Humans KW - Lysine KW - Male KW - Muscle Hypertonia KW - diagnosis KW - Point Mutation KW - Pregnancy KW - Prenatal Diagnosis KW - Receptors, Glycine KW - Reflex, Abnormal N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1177/0883073807303996 ER -