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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)
Real-time quantitative PCR as a routine method for screening large
rearrangements in Rett syndrome: Report of one case of MECP2
deletion and one case of MECP2 duplication.
Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek
G, Rocchi R, Zappella M, Renieri A.
Hum
Mutat. 2004 Aug;24(2):
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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