title: Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia.
authors: Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Fabiana
authors: F
authors: Ursitti
authors: Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Fiorenza
authors: F
authors: Ulgiati
authors: Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Laura
authors: L
authors: Papetti
authors: Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Francesco
authors: F
authors: Nicita
authors: Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Eleonora
authors: E
authors: Lovardi
authors: Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Claudia
authors: C
authors: Vecchi
authors: Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
authors: Vincenza
authors: V
authors: Di Marino
authors: Consortium for Human Molecular Genetics, Monza, Italy.
authors: Francesca
authors: F
authors: Bertola
authors: Consortium for Human Molecular Genetics, Monza, Italy. Electronic address: childneurology.sapienzaroma@live.it.
authors: Alberto
authors: A
authors: Spalice
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D018009:Receptors, Glycine / Q000235:genetics*; D035781:Siblings; D016750:Stiff-Person Syndrome / Q000235:genetics* / Q000503:physiopathology
chemical_list: D018009:Receptors, Glycine