Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCSS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
Francesco
F
Nicita
Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
Lorena
L
Travaglini
Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
Sandro
S
Sabatini
Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Via Celoria 11, 20133, Milan, Italy.
Barbara
B
Garavaglia
Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Via Celoria 11, 20133, Milan, Italy.
Celeste
C
Panteghini
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
Massimiliano
M
Valeriani
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
Enrico
E
Bertini
Unit of Neuropediatry, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Via Celoria 11, 20133, Milan, Italy.
Nardo
N
Nardocci
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
Federico
F
Vigevano
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy. Electronic address: alessandro.capuano@opbg.net.
Alessandro
A
Capuano
D000293:Adolescent; D017668:Age of Onset; D020821:Dystonic Disorders / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
Alternating hemiplegia of childhood; Dystonia; Epilepsy; Fever; Rapid-onset dystonia-parkinsonism