Article
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Neuropediatrics - 1 Feb 2012
Pini Giorgio, Bigoni Stefania, Engerström Ingegerd Witt, Calabrese Olga, Felloni Beatrice, Scusa Maria Flora, Di Marco Pietro, Borelli Paolo, Bonuccelli Ubaldo, Julu Peter O O, Nielsen Jytte Bieber, Morin Bodil, Hansen Stig, Gobbi Giuseppe, Visconti Paola, Pintaudi Maria, Edvige Veneselli, Romanelli Anna, Bianchi Fabrizio, Casarano Manuela, Battini Roberta, Cioni Giovanni, Ariani Francesca, Renieri Alessandra, Benincasa Alberto, Delamont Robert S, Zappella Michele
Abstract excerpt
UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe...
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