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1)
CDKL5 belongs to the same molecular pathway of MeCP2 and it is
responsible for the early-onset seizure variant of Rett syndrome.
Mari
F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala
E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P,
Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A,
Kilstrup-Nielsen C, Landsberger N.
Hum Mol Genet.
2005 Jul 15;14(14):1935-46. Epub 2005 May 25.
2)
Italian Rett database and biobank.
Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C,
Longo I, Artuso R, Bruttini M, Mencarelli MA, Speciale C, Causarano
V, Hayek G, Zappella M, Renieri A, Mari F.
Hum
Mutat. 2007 Apr;28(4):329-35.
3)
FOXG1 is responsible for the congenital variant of Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA,
Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S,
Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.
Am J
Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.
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