Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation.
Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. Electronic address: fusco.carlo@asmn.re.it.
Carlo
C
Fusco
Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Angelo
A
Russo
Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Federica
F
Invernizzi
Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Daniele
D
Frattini
Child Neuropsychiatric Unit, University of Parma, Italy.
Francesco
F
Pisani
Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Barbara
B
Garavaglia
D002648:Child; D002819:Chorea / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D012640:Seizures / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human